SNP Links for Protein (Select 345197222) - SNP

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Links from Protein

Items: 1 to 20 of 173

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Select item 14777209061.

rs1477720906 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:37997512 (GRCh38)
1:38463184 (GRCh37)
Canonical SPDI:: NC_000001.11:37997511:G:C
Gene:: FHL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.37997512G>C, NC_000001.10:g.38463184G>C, NM_004468.5:c.736C>G, NM_004468.4:c.736C>G, NM_001243878.2:c.412C>G, NM_001243878.1:c.412C>G, NP_004459.2:p.His246Asp, NP_001230807.1:p.His138Asp

Select item 14772568762.

rs1477256876 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:37997974 (GRCh38)
1:38463646 (GRCh37)
Canonical SPDI:: NC_000001.11:37997973:G:A
Gene:: FHL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.37997974G>A, NC_000001.10:g.38463646G>A, NM_004468.5:c.490C>T, NM_004468.4:c.490C>T, NM_001243878.2:c.166C>T, NM_001243878.1:c.166C>T, NP_004459.2:p.Arg164Cys, NP_001230807.1:p.Arg56Cys

Select item 14738114863.

rs1473811486 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:37997803 (GRCh38)
1:38463475 (GRCh37)
Canonical SPDI:: NC_000001.11:37997802:C:T
Gene:: FHL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000001.11:g.37997803C>T, NC_000001.10:g.38463475C>T, NM_004468.5:c.569G>A, NM_004468.4:c.569G>A, NM_001243878.2:c.245G>A, NM_001243878.1:c.245G>A, NP_004459.2:p.Gly190Glu, NP_001230807.1:p.Gly82Glu

Select item 14710295474.

rs1471029547 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:37997417 (GRCh38)
1:38463089 (GRCh37)
Canonical SPDI:: NC_000001.11:37997416:C:G
Gene:: FHL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.37997417C>G, NC_000001.10:g.38463089C>G, NM_004468.5:c.831G>C, NM_004468.4:c.831G>C, NM_001243878.2:c.507G>C, NM_001243878.1:c.507G>C, NP_004459.2:p.Gln277His, NP_001230807.1:p.Gln169His

Select item 14686430415.

rs1468643041 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:37998125 (GRCh38)
1:38463797 (GRCh37)
Canonical SPDI:: NC_000001.11:37998124:C:T
Gene:: FHL3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.37998125C>T, NC_000001.10:g.38463797C>T, NM_004468.5:c.339G>A, NM_004468.4:c.339G>A, NM_001243878.2:c.15G>A, NM_001243878.1:c.15G>A

Select item 14672774016.

rs1467277401 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:37997792 (GRCh38)
1:38463464 (GRCh37)
Canonical SPDI:: NC_000001.11:37997791:G:A
Gene:: FHL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.37997792G>A, NC_000001.10:g.38463464G>A, NM_004468.5:c.580C>T, NM_004468.4:c.580C>T, NM_001243878.2:c.256C>T, NM_001243878.1:c.256C>T, NP_004459.2:p.Pro194Ser, NP_001230807.1:p.Pro86Ser

Select item 14589800147.

rs1458980014 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 1:37997487 (GRCh38)
1:38463159 (GRCh37)
Canonical SPDI:: NC_000001.11:37997486:C:
Gene:: FHL3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.37997487del, NC_000001.10:g.38463159del, NM_004468.5:c.761del, NM_004468.4:c.761del, NM_001243878.2:c.437del, NM_001243878.1:c.437del, NP_004459.2:p.Cys254fs, NP_001230807.1:p.Cys146fs

Select item 14538028248.

rs1453802824 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:37997443 (GRCh38)
1:38463115 (GRCh37)
Canonical SPDI:: NC_000001.11:37997442:G:A
Gene:: FHL3 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.37997443G>A, NC_000001.10:g.38463115G>A, NM_004468.5:c.805C>T, NM_004468.4:c.805C>T, NM_001243878.2:c.481C>T, NM_001243878.1:c.481C>T, NP_004459.2:p.Gln269Ter, NP_001230807.1:p.Gln161Ter

Select item 14495971889.

rs1449597188 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:37997760 (GRCh38)
1:38463432 (GRCh37)
Canonical SPDI:: NC_000001.11:37997759:A:C
Gene:: FHL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000034/9 (TOPMED)
HGVS:: NC_000001.11:g.37997760A>C, NC_000001.10:g.38463432A>C, NM_004468.5:c.612T>G, NM_004468.4:c.612T>G, NM_001243878.2:c.288T>G, NM_001243878.1:c.288T>G, NP_004459.2:p.Asp204Glu, NP_001230807.1:p.Asp96Glu

Select item 144378639010.

rs1443786390 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 1:37997526 (GRCh38)
1:38463198 (GRCh37)
Canonical SPDI:: NC_000001.11:37997525:T:A,NC_000001.11:37997525:T:G
Gene:: FHL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
G=0.001092/2 (Korea1K)
HGVS:: NC_000001.11:g.37997526T>A, NC_000001.11:g.37997526T>G, NC_000001.10:g.38463198T>A, NC_000001.10:g.38463198T>G, NM_004468.5:c.722A>T, NM_004468.5:c.722A>C, NM_004468.4:c.722A>T, NM_004468.4:c.722A>C, NM_001243878.2:c.398A>T, NM_001243878.2:c.398A>C, NM_001243878.1:c.398A>T, NM_001243878.1:c.398A>C, NP_004459.2:p.Asp241Val, NP_004459.2:p.Asp241Ala, NP_001230807.1:p.Asp133Val, NP_001230807.1:p.Asp133Ala

Select item 144140691511.

rs1441406915 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:37998052 (GRCh38)
1:38463724 (GRCh37)
Canonical SPDI:: NC_000001.11:37998051:A:C
Gene:: FHL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.37998052A>C, NC_000001.10:g.38463724A>C, NM_004468.5:c.412T>G, NM_004468.4:c.412T>G, NM_001243878.2:c.88T>G, NM_001243878.1:c.88T>G, NP_004459.2:p.Ser138Ala, NP_001230807.1:p.Ser30Ala

Select item 142158614512.

rs1421586145 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:37997987 (GRCh38)
1:38463659 (GRCh37)
Canonical SPDI:: NC_000001.11:37997986:A:G
Gene:: FHL3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.37997987A>G, NC_000001.10:g.38463659A>G, NM_004468.5:c.477T>C, NM_004468.4:c.477T>C, NM_001243878.2:c.153T>C, NM_001243878.1:c.153T>C

Select item 141979491613.

rs1419794916 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:37997515 (GRCh38)
1:38463187 (GRCh37)
Canonical SPDI:: NC_000001.11:37997514:G:A
Gene:: FHL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.37997515G>A, NC_000001.10:g.38463187G>A, NM_004468.5:c.733C>T, NM_004468.4:c.733C>T, NM_001243878.2:c.409C>T, NM_001243878.1:c.409C>T, NP_004459.2:p.His245Tyr, NP_001230807.1:p.His137Tyr

Select item 141755000614.

rs1417550006 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:37997747 (GRCh38)
1:38463419 (GRCh37)
Canonical SPDI:: NC_000001.11:37997746:A:G
Gene:: FHL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.37997747A>G, NC_000001.10:g.38463419A>G, NM_004468.5:c.625T>C, NM_004468.4:c.625T>C, NM_001243878.2:c.301T>C, NM_001243878.1:c.301T>C, NP_004459.2:p.Cys209Arg, NP_001230807.1:p.Cys101Arg

Select item 141414108815.

rs1414141088 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:37997455 (GRCh38)
1:38463127 (GRCh37)
Canonical SPDI:: NC_000001.11:37997454:G:A,NC_000001.11:37997454:G:C
Gene:: FHL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.37997455G>A, NC_000001.11:g.37997455G>C, NC_000001.10:g.38463127G>A, NC_000001.10:g.38463127G>C, NM_004468.5:c.793C>T, NM_004468.5:c.793C>G, NM_004468.4:c.793C>T, NM_004468.4:c.793C>G, NM_001243878.2:c.469C>T, NM_001243878.2:c.469C>G, NM_001243878.1:c.469C>T, NM_001243878.1:c.469C>G, NP_004459.2:p.Pro265Ser, NP_004459.2:p.Pro265Ala, NP_001230807.1:p.Pro157Ser, NP_001230807.1:p.Pro157Ala

Select item 141274513716.

rs1412745137 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:37998051 (GRCh38)
1:38463723 (GRCh37)
Canonical SPDI:: NC_000001.11:37998050:G:T
Gene:: FHL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.37998051G>T, NC_000001.10:g.38463723G>T, NM_004468.5:c.413C>A, NM_004468.4:c.413C>A, NM_001243878.2:c.89C>A, NM_001243878.1:c.89C>A, NP_004459.2:p.Ser138Tyr, NP_001230807.1:p.Ser30Tyr

Select item 140180849417.

rs1401808494 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:37998115 (GRCh38)
1:38463787 (GRCh37)
Canonical SPDI:: NC_000001.11:37998114:A:G
Gene:: FHL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.37998115A>G, NC_000001.10:g.38463787A>G, NM_004468.5:c.349T>C, NM_004468.4:c.349T>C, NM_001243878.2:c.25T>C, NM_001243878.1:c.25T>C, NP_004459.2:p.Tyr117His, NP_001230807.1:p.Tyr9His

Select item 139919761218.

rs1399197612 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:37998058 (GRCh38)
1:38463730 (GRCh37)
Canonical SPDI:: NC_000001.11:37998057:G:C
Gene:: FHL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000312/2 (1000Genomes)
HGVS:: NC_000001.11:g.37998058G>C, NC_000001.10:g.38463730G>C, NM_004468.5:c.406C>G, NM_004468.4:c.406C>G, NM_001243878.2:c.82C>G, NM_001243878.1:c.82C>G, NP_004459.2:p.Leu136Val, NP_001230807.1:p.Leu28Val

Select item 138665785919.

rs1386657859 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:37997492 (GRCh38)
1:38463164 (GRCh37)
Canonical SPDI:: NC_000001.11:37997491:G:T
Gene:: FHL3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.37997492G>T, NC_000001.10:g.38463164G>T, NM_004468.5:c.756C>A, NM_004468.4:c.756C>A, NM_001243878.2:c.432C>A, NM_001243878.1:c.432C>A

Select item 137930971920.

rs1379309719 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:37997432 (GRCh38)
1:38463104 (GRCh37)
Canonical SPDI:: NC_000001.11:37997431:G:T
Gene:: FHL3 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.37997432G>T, NC_000001.10:g.38463104G>T, NM_004468.5:c.816C>A, NM_004468.4:c.816C>A, NM_001243878.2:c.492C>A, NM_001243878.1:c.492C>A, NP_004459.2:p.Cys272Ter, NP_001230807.1:p.Cys164Ter

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