SNP Links for Protein (Select 319918855) - SNP

Links from Protein

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Select item 14907465771.

rs1490746577 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 16:4395308 (GRCh38)
16:4445309 (GRCh37)
Canonical SPDI:: NC_000016.10:4395307:G:A,NC_000016.10:4395307:G:C,NC_000016.10:4395307:G:T
Gene:: CORO7 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
T=0.000142/2 (TOMMO)
HGVS:: NC_000016.10:g.4395308G>A, NC_000016.10:g.4395308G>C, NC_000016.10:g.4395308G>T, NC_000016.9:g.4445309G>A, NC_000016.9:g.4445309G>C, NC_000016.9:g.4445309G>T, NG_052966.1:g.26654C>T, NG_052966.1:g.26654C>G, NG_052966.1:g.26654C>A, NM_024535.5:c.596C>T, NM_024535.5:c.596C>G, NM_024535.5:c.596C>A, NM_024535.4:c.596C>T, NM_024535.4:c.596C>G, NM_024535.4:c.596C>A, NM_001351729.2:c.-65C>T, NM_001351729.2:c.-65C>G, NM_001351729.2:c.-65C>A, NM_001351729.1:c.-65C>T, NM_001351729.1:c.-65C>G, NM_001351729.1:c.-65C>A, NM_001201472.2:c.542C>T, NM_001201472.2:c.542C>G, NM_001201472.2:c.542C>A, NM_001201472.1:c.542C>T, NM_001201472.1:c.542C>G, NM_001201472.1:c.542C>A, NM_001201473.2:c.341C>T, NM_001201473.2:c.341C>G, NM_001201473.2:c.341C>A, NM_001201473.1:c.341C>T, NM_001201473.1:c.341C>G, NM_001201473.1:c.341C>A, NT_187608.1:g.97631G>A, NT_187608.1:g.97631G>C, NT_187608.1:g.97631G>T, NM_001201479.2:c.596C>T, NM_001201479.2:c.596C>G, NM_001201479.2:c.596C>A, NM_001201479.1:c.596C>T, NM_001201479.1:c.596C>G, NM_001201479.1:c.596C>A, NR_145128.1:n.694C>T, NR_145128.1:n.694C>G, NR_145128.1:n.694C>A, NP_078811.3:p.Thr199Ile, NP_078811.3:p.Thr199Arg, NP_078811.3:p.Thr199Lys, NP_001188401.1:p.Thr181Ile, NP_001188401.1:p.Thr181Arg, NP_001188401.1:p.Thr181Lys, NP_001188402.1:p.Thr114Ile, NP_001188402.1:p.Thr114Arg, NP_001188402.1:p.Thr114Lys, NP_001188408.1:p.Thr199Ile, NP_001188408.1:p.Thr199Arg, NP_001188408.1:p.Thr199Lys

Select item 14890800242.

rs1489080024 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:4357249 (GRCh38)
16:4407250 (GRCh37)
Canonical SPDI:: NC_000016.10:4357248:G:A,NC_000016.10:4357248:G:T
Gene:: CORO7 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.4357249G>A, NC_000016.10:g.4357249G>T, NC_000016.9:g.4407250G>A, NC_000016.9:g.4407250G>T, NG_052966.1:g.64713C>T, NG_052966.1:g.64713C>A, NM_024535.5:c.2604C>T, NM_024535.5:c.2604C>A, NM_024535.4:c.2604C>T, NM_024535.4:c.2604C>A, NM_001351729.2:c.1944C>T, NM_001351729.2:c.1944C>A, NM_001351729.1:c.1944C>T, NM_001351729.1:c.1944C>A, NM_001201472.2:c.2550C>T, NM_001201472.2:c.2550C>A, NM_001201472.1:c.2550C>T, NM_001201472.1:c.2550C>A, NM_001201473.2:c.2349C>T, NM_001201473.2:c.2349C>A, NM_001201473.1:c.2349C>T, NM_001201473.1:c.2349C>A, NT_187608.1:g.59573G>A, NT_187608.1:g.59573G>T, NM_001201479.2:c.2604C>T, NM_001201479.2:c.2604C>A, NM_001201479.1:c.2604C>T, NM_001201479.1:c.2604C>A, NR_145128.1:n.2702C>T, NR_145128.1:n.2702C>A

Select item 14880895883.

rs1488089588 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:4407622 (GRCh38)
16:4457623 (GRCh37)
Canonical SPDI:: NC_000016.10:4407621:C:T
Gene:: CORO7 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,intron_variant,synonymous_variant
HGVS:: NC_000016.10:g.4407622C>T, NC_000016.9:g.4457623C>T, NG_052966.1:g.14340G>A, NM_024535.5:c.366G>A, NM_024535.4:c.366G>A, NM_001351729.2:c.-234G>A, NM_001351729.1:c.-234G>A, NM_001201472.2:c.312G>A, NM_001201472.1:c.312G>A, NT_187608.1:g.109945C>T, NM_001201479.2:c.366G>A, NM_001201479.1:c.366G>A, NR_145128.1:n.525G>A

Select item 14855458284.

rs1485545828 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:4357969 (GRCh38)
16:4407970 (GRCh37)
Canonical SPDI:: NC_000016.10:4357968:T:C
Gene:: CORO7 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.4357969T>C, NC_000016.9:g.4407970T>C, NG_052966.1:g.63993A>G, NM_024535.5:c.2592A>G, NM_024535.4:c.2592A>G, NM_001351729.2:c.1932A>G, NM_001351729.1:c.1932A>G, NM_001201472.2:c.2538A>G, NM_001201472.1:c.2538A>G, NM_001201473.2:c.2337A>G, NM_001201473.1:c.2337A>G, NT_187608.1:g.60292T>C, NM_001201479.2:c.2592A>G, NM_001201479.1:c.2592A>G, NR_145128.1:n.2690A>G

Select item 14852376585.

rs1485237658 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:4413364 (GRCh38)
16:4463365 (GRCh37)
Canonical SPDI:: NC_000016.10:4413363:C:A,NC_000016.10:4413363:C:T
Gene:: CORO7 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.4413364C>A, NC_000016.10:g.4413364C>T, NC_000016.9:g.4463365C>A, NC_000016.9:g.4463365C>T, NG_052966.1:g.8598G>T, NG_052966.1:g.8598G>A, NM_024535.5:c.101G>T, NM_024535.5:c.101G>A, NM_024535.4:c.101G>T, NM_024535.4:c.101G>A, NM_001351729.2:c.-499G>T, NM_001351729.2:c.-499G>A, NM_001351729.1:c.-499G>T, NM_001351729.1:c.-499G>A, NM_001201472.2:c.101G>T, NM_001201472.2:c.101G>A, NM_001201472.1:c.101G>T, NM_001201472.1:c.101G>A, NM_001201473.2:c.101G>T, NM_001201473.2:c.101G>A, NM_001201473.1:c.101G>T, NM_001201473.1:c.101G>A, NT_187608.1:g.115687C>A, NT_187608.1:g.115687C>T, NM_001201479.2:c.101G>T, NM_001201479.2:c.101G>A, NM_001201479.1:c.101G>T, NM_001201479.1:c.101G>A, NR_145128.1:n.260G>T, NR_145128.1:n.260G>A, NP_078811.3:p.Cys34Phe, NP_078811.3:p.Cys34Tyr, NP_001188401.1:p.Cys34Phe, NP_001188401.1:p.Cys34Tyr, NP_001188402.1:p.Cys34Phe, NP_001188402.1:p.Cys34Tyr, NP_001188408.1:p.Cys34Phe, NP_001188408.1:p.Cys34Tyr

Select item 14848523266.

rs1484852326 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:4362013 (GRCh38)
16:4412014 (GRCh37)
Canonical SPDI:: NC_000016.10:4362012:C:T
Gene:: CORO7 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.4362013C>T, NC_000016.9:g.4412014C>T, NG_052966.1:g.59949G>A, NM_024535.5:c.1550G>A, NM_024535.4:c.1550G>A, NM_001351729.2:c.890G>A, NM_001351729.1:c.890G>A, NM_001201472.2:c.1496G>A, NM_001201472.1:c.1496G>A, NM_001201473.2:c.1295G>A, NM_001201473.1:c.1295G>A, NT_187608.1:g.64336C>T, NM_001201479.2:c.1550G>A, NM_001201479.1:c.1550G>A, NR_145128.1:n.1648G>A, NP_078811.3:p.Ser517Asn, NP_001338658.1:p.Ser297Asn, NP_001188401.1:p.Ser499Asn, NP_001188402.1:p.Ser432Asn, NP_001188408.1:p.Ser517Asn

Select item 14842416097.

rs1484241609 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:4365529 (GRCh38)
16:4415530 (GRCh37)
Canonical SPDI:: NC_000016.10:4365528:G:C
Gene:: CORO7 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.4365529G>C, NC_000016.9:g.4415530G>C, NG_052966.1:g.56433C>G, NM_024535.5:c.802C>G, NM_024535.4:c.802C>G, NM_001351729.2:c.142C>G, NM_001351729.1:c.142C>G, NM_001201472.2:c.748C>G, NM_001201472.1:c.748C>G, NM_001201473.2:c.547C>G, NM_001201473.1:c.547C>G, NT_187608.1:g.67852G>C, NM_001201479.2:c.802C>G, NM_001201479.1:c.802C>G, NR_145128.1:n.900C>G, NP_078811.3:p.Leu268Val, NP_001338658.1:p.Leu48Val, NP_001188401.1:p.Leu250Val, NP_001188402.1:p.Leu183Val, NP_001188408.1:p.Leu268Val

Select item 14816331278.

rs1481633127 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:4364623 (GRCh38)
16:4414624 (GRCh37)
Canonical SPDI:: NC_000016.10:4364622:T:C
Gene:: CORO7 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000016.10:g.4364623T>C, NC_000016.9:g.4414624T>C, NG_052966.1:g.57339A>G, NM_024535.5:c.1111A>G, NM_024535.4:c.1111A>G, NM_001351729.2:c.451A>G, NM_001351729.1:c.451A>G, NM_001201472.2:c.1057A>G, NM_001201472.1:c.1057A>G, NM_001201473.2:c.856A>G, NM_001201473.1:c.856A>G, NT_187608.1:g.66946T>C, NM_001201479.2:c.1111A>G, NM_001201479.1:c.1111A>G, NR_145128.1:n.1209A>G, NP_078811.3:p.Ser371Gly, NP_001338658.1:p.Ser151Gly, NP_001188401.1:p.Ser353Gly, NP_001188402.1:p.Ser286Gly, NP_001188408.1:p.Ser371Gly

Select item 14814974939.

rs1481497493 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 16:4364386 (GRCh38)
16:4414387 (GRCh37)
Canonical SPDI:: NC_000016.10:4364385:A:
Gene:: CORO7 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.4364386del, NC_000016.9:g.4414387del, NG_052966.1:g.57576del, NM_024535.5:c.1165del, NM_024535.4:c.1165del, NM_001351729.2:c.505del, NM_001351729.1:c.505del, NM_001201472.2:c.1111del, NM_001201472.1:c.1111del, NM_001201473.2:c.910del, NM_001201473.1:c.910del, NT_187608.1:g.66709del, NM_001201479.2:c.1165del, NM_001201479.1:c.1165del, NR_145128.1:n.1263del, NP_078811.3:p.Cys389fs, NP_001338658.1:p.Cys169fs, NP_001188401.1:p.Cys371fs, NP_001188402.1:p.Cys304fs, NP_001188408.1:p.Cys389fs

Select item 148087485410.

rs1480874854 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:4388592 (GRCh38)
16:4438593 (GRCh37)
Canonical SPDI:: NC_000016.10:4388591:C:T
Gene:: CORO7 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.4388592C>T, NC_000016.9:g.4438593C>T, NG_052966.1:g.33370G>A, NM_024535.5:c.655G>A, NM_024535.4:c.655G>A, NM_001351729.2:c.-6G>A, NM_001351729.1:c.-6G>A, NM_001201472.2:c.601G>A, NM_001201472.1:c.601G>A, NM_001201473.2:c.400G>A, NM_001201473.1:c.400G>A, NT_187608.1:g.90915C>T, NM_001201479.2:c.655G>A, NM_001201479.1:c.655G>A, NR_145128.1:n.753G>A, NP_078811.3:p.Ala219Thr, NP_001188401.1:p.Ala201Thr, NP_001188402.1:p.Ala134Thr, NP_001188408.1:p.Ala219Thr

Select item 148076852211.

rs1480768522 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:4405544 (GRCh38)
16:4455545 (GRCh37)
Canonical SPDI:: NC_000016.10:4405543:C:T
Gene:: CORO7 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000142/2 (TOMMO)
HGVS:: NC_000016.10:g.4405544C>T, NC_000016.9:g.4455545C>T, NG_052966.1:g.16418G>A, NM_024535.5:c.511G>A, NM_024535.4:c.511G>A, NM_001351729.2:c.-150G>A, NM_001351729.1:c.-150G>A, NM_001201472.2:c.457G>A, NM_001201472.1:c.457G>A, NM_001201473.2:c.256G>A, NM_001201473.1:c.256G>A, NT_187608.1:g.107867C>T, NM_001201479.2:c.511G>A, NM_001201479.1:c.511G>A, NR_145128.1:n.609G>A, NP_078811.3:p.Val171Met, NP_001188401.1:p.Val153Met, NP_001188402.1:p.Val86Met, NP_001188408.1:p.Val171Met

Select item 147954488712.

rs1479544887 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:4364920 (GRCh38)
16:4414921 (GRCh37)
Canonical SPDI:: NC_000016.10:4364919:A:G
Gene:: CORO7 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.4364920A>G, NC_000016.9:g.4414921A>G, NG_052966.1:g.57042T>C, NM_024535.5:c.899T>C, NM_024535.4:c.899T>C, NM_001351729.2:c.239T>C, NM_001351729.1:c.239T>C, NM_001201472.2:c.845T>C, NM_001201472.1:c.845T>C, NM_001201473.2:c.644T>C, NM_001201473.1:c.644T>C, NT_187608.1:g.67243A>G, NM_001201479.2:c.899T>C, NM_001201479.1:c.899T>C, NR_145128.1:n.997T>C, NP_078811.3:p.Val300Ala, NP_001338658.1:p.Val80Ala, NP_001188401.1:p.Val282Ala, NP_001188402.1:p.Val215Ala, NP_001188408.1:p.Val300Ala

Select item 147951616213.

rs1479516162 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:4361432 (GRCh38)
16:4411433 (GRCh37)
Canonical SPDI:: NC_000016.10:4361431:G:C
Gene:: CORO7 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.4361432G>C, NC_000016.9:g.4411433G>C, NG_052966.1:g.60530C>G, NM_024535.5:c.1616C>G, NM_024535.4:c.1616C>G, NM_001351729.2:c.956C>G, NM_001351729.1:c.956C>G, NM_001201472.2:c.1562C>G, NM_001201472.1:c.1562C>G, NM_001201473.2:c.1361C>G, NM_001201473.1:c.1361C>G, NT_187608.1:g.63755G>C, NM_001201479.2:c.1616C>G, NM_001201479.1:c.1616C>G, NR_145128.1:n.1714C>G, NP_078811.3:p.Pro539Arg, NP_001338658.1:p.Pro319Arg, NP_001188401.1:p.Pro521Arg, NP_001188402.1:p.Pro454Arg, NP_001188408.1:p.Pro539Arg

Select item 147933218514.

rs1479332185 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:4361166 (GRCh38)
16:4411167 (GRCh37)
Canonical SPDI:: NC_000016.10:4361165:G:A
Gene:: CORO7 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000187/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.4361166G>A, NC_000016.9:g.4411167G>A, NG_052966.1:g.60796C>T, NM_024535.5:c.1770C>T, NM_024535.4:c.1770C>T, NM_001351729.2:c.1110C>T, NM_001351729.1:c.1110C>T, NM_001201472.2:c.1716C>T, NM_001201472.1:c.1716C>T, NM_001201473.2:c.1515C>T, NM_001201473.1:c.1515C>T, NT_187608.1:g.63489G>A, NM_001201479.2:c.1770C>T, NM_001201479.1:c.1770C>T, NR_145128.1:n.1868C>T

Select item 147913242015.

rs1479132420 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:4407650 (GRCh38)
16:4457651 (GRCh37)
Canonical SPDI:: NC_000016.10:4407649:G:A
Gene:: CORO7 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.4407650G>A, NC_000016.9:g.4457651G>A, NG_052966.1:g.14312C>T, NM_024535.5:c.338C>T, NM_024535.4:c.338C>T, NM_001351729.2:c.-262C>T, NM_001351729.1:c.-262C>T, NM_001201472.2:c.284C>T, NM_001201472.1:c.284C>T, NT_187608.1:g.109973G>A, NM_001201479.2:c.338C>T, NM_001201479.1:c.338C>T, NR_145128.1:n.497C>T, NP_078811.3:p.Ala113Val, NP_001188401.1:p.Ala95Val, NP_001188408.1:p.Ala113Val

Select item 147901064916.

rs1479010649 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 16:4360485 (GRCh38)
16:4410486 (GRCh37)
Canonical SPDI:: NC_000016.10:4360484:C:A,NC_000016.10:4360484:C:G,NC_000016.10:4360484:C:T
Gene:: CORO7 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00003/1 (ALFA)
HGVS:: NC_000016.10:g.4360485C>A, NC_000016.10:g.4360485C>G, NC_000016.10:g.4360485C>T, NC_000016.9:g.4410486C>A, NC_000016.9:g.4410486C>G, NC_000016.9:g.4410486C>T, NG_052966.1:g.61477G>T, NG_052966.1:g.61477G>C, NG_052966.1:g.61477G>A, NM_024535.5:c.1981G>T, NM_024535.5:c.1981G>C, NM_024535.5:c.1981G>A, NM_024535.4:c.1981G>T, NM_024535.4:c.1981G>C, NM_024535.4:c.1981G>A, NM_001351729.2:c.1321G>T, NM_001351729.2:c.1321G>C, NM_001351729.2:c.1321G>A, NM_001351729.1:c.1321G>T, NM_001351729.1:c.1321G>C, NM_001351729.1:c.1321G>A, NM_001201472.2:c.1927G>T, NM_001201472.2:c.1927G>C, NM_001201472.2:c.1927G>A, NM_001201472.1:c.1927G>T, NM_001201472.1:c.1927G>C, NM_001201472.1:c.1927G>A, NM_001201473.2:c.1726G>T, NM_001201473.2:c.1726G>C, NM_001201473.2:c.1726G>A, NM_001201473.1:c.1726G>T, NM_001201473.1:c.1726G>C, NM_001201473.1:c.1726G>A, NT_187608.1:g.62808C>A, NT_187608.1:g.62808C>G, NT_187608.1:g.62808C>T, NM_001201479.2:c.1981G>T, NM_001201479.2:c.1981G>C, NM_001201479.2:c.1981G>A, NM_001201479.1:c.1981G>T, NM_001201479.1:c.1981G>C, NM_001201479.1:c.1981G>A, NR_145128.1:n.2079G>T, NR_145128.1:n.2079G>C, NR_145128.1:n.2079G>A, NP_078811.3:p.Val661Leu, NP_078811.3:p.Val661Leu, NP_078811.3:p.Val661Met, NP_001338658.1:p.Val441Leu, NP_001338658.1:p.Val441Leu, NP_001338658.1:p.Val441Met, NP_001188401.1:p.Val643Leu, NP_001188401.1:p.Val643Leu, NP_001188401.1:p.Val643Met, NP_001188402.1:p.Val576Leu, NP_001188402.1:p.Val576Leu, NP_001188402.1:p.Val576Met, NP_001188408.1:p.Val661Leu, NP_001188408.1:p.Val661Leu, NP_001188408.1:p.Val661Met

Select item 147882688317.

rs1478826883 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:4413373 (GRCh38)
16:4463374 (GRCh37)
Canonical SPDI:: NC_000016.10:4413372:G:T
Gene:: CORO7 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.4413373G>T, NC_000016.9:g.4463374G>T, NG_052966.1:g.8589C>A, NM_024535.5:c.92C>A, NM_024535.4:c.92C>A, NM_001351729.2:c.-508C>A, NM_001351729.1:c.-508C>A, NM_001201472.2:c.92C>A, NM_001201472.1:c.92C>A, NM_001201473.2:c.92C>A, NM_001201473.1:c.92C>A, NT_187608.1:g.115696G>T, NM_001201479.2:c.92C>A, NM_001201479.1:c.92C>A, NR_145128.1:n.251C>A, NP_078811.3:p.Ala31Asp, NP_001188401.1:p.Ala31Asp, NP_001188402.1:p.Ala31Asp, NP_001188408.1:p.Ala31Asp

Select item 147798385618.

rs1477983856 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:4407508 (GRCh38)
16:4457509 (GRCh37)
Canonical SPDI:: NC_000016.10:4407507:G:C
Gene:: CORO7 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.4407508G>C, NC_000016.9:g.4457509G>C, NG_052966.1:g.14454C>G, NM_024535.5:c.480C>G, NM_024535.4:c.480C>G, NM_001201472.2:c.426C>G, NM_001201472.1:c.426C>G, NT_187608.1:g.109831G>C, NM_001201479.2:c.480C>G, NM_001201479.1:c.480C>G

Select item 147685227319.

rs1476852273 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:4355369 (GRCh38)
16:4405370 (GRCh37)
Canonical SPDI:: NC_000016.10:4355368:G:C
Gene:: CORO7 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000019/5 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000016.10:g.4355369G>C, NC_000016.9:g.4405370G>C, NG_052966.1:g.66593C>G, NM_024535.5:c.2689C>G, NM_024535.4:c.2689C>G, NM_001351729.2:c.2029C>G, NM_001351729.1:c.2029C>G, NM_001201472.2:c.2635C>G, NM_001201472.1:c.2635C>G, NM_001201473.2:c.2434C>G, NM_001201473.1:c.2434C>G, NG_054893.1:g.1004C>G, NT_187608.1:g.57694G>C, NM_001201479.2:c.2689C>G, NM_001201479.1:c.2689C>G, NR_145128.1:n.2787C>G, NP_078811.3:p.Leu897Val, NP_001338658.1:p.Leu677Val, NP_001188401.1:p.Leu879Val, NP_001188402.1:p.Leu812Val, NP_001188408.1:p.Leu897Val

Select item 147680239120.

rs1476802391 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:4360524 (GRCh38)
16:4410525 (GRCh37)
Canonical SPDI:: NC_000016.10:4360523:C:G
Gene:: CORO7 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.4360524C>G, NC_000016.9:g.4410525C>G, NG_052966.1:g.61438G>C, NM_024535.5:c.1942G>C, NM_024535.4:c.1942G>C, NM_001351729.2:c.1282G>C, NM_001351729.1:c.1282G>C, NM_001201472.2:c.1888G>C, NM_001201472.1:c.1888G>C, NM_001201473.2:c.1687G>C, NM_001201473.1:c.1687G>C, NT_187608.1:g.62847C>G, NM_001201479.2:c.1942G>C, NM_001201479.1:c.1942G>C, NR_145128.1:n.2040G>C, NP_078811.3:p.Asp648His, NP_001338658.1:p.Asp428His, NP_001188401.1:p.Asp630His, NP_001188402.1:p.Asp563His, NP_001188408.1:p.Asp648His

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