SNP Links for Protein (Select 4503555) - SNP

Links from Protein

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Select item 14872107891.

rs1487210789 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:130069327 (GRCh38)
X:129203302 (GRCh37)
Canonical SPDI:: NC_000023.11:130069326:C:T
Gene:: ELF4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.130069327C>T, NC_000023.10:g.129203302C>T, NG_016388.1:g.46387G>A, NM_001421.4:c.1160G>A, NM_001421.3:c.1160G>A, NM_001127197.2:c.1160G>A, NM_001127197.1:c.1160G>A, XM_005262389.4:c.1160G>A, XM_005262389.3:c.1160G>A, XM_005262389.2:c.1160G>A, XM_005262389.1:c.1160G>A, XM_011531308.4:c.929G>A, XM_011531308.3:c.929G>A, XM_011531308.2:c.929G>A, XM_011531308.1:c.929G>A, XM_047441900.1:c.1160G>A, NP_001412.1:p.Gly387Asp, NP_001120669.1:p.Gly387Asp, XP_005262446.1:p.Gly387Asp, XP_011529610.1:p.Gly310Asp, XP_047297856.1:p.Gly387Asp

Select item 14834785302.

rs1483478530 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:130067184 (GRCh38)
X:129201159 (GRCh37)
Canonical SPDI:: NC_000023.11:130067183:G:A
Gene:: ELF4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.130067184G>A, NC_000023.10:g.129201159G>A, NG_016388.1:g.48530C>T, NM_001421.4:c.1529C>T, NM_001421.3:c.1529C>T, NM_001127197.2:c.1529C>T, NM_001127197.1:c.1529C>T, XM_005262389.4:c.1529C>T, XM_005262389.3:c.1529C>T, XM_005262389.2:c.1529C>T, XM_005262389.1:c.1529C>T, XM_011531308.4:c.1298C>T, XM_011531308.3:c.1298C>T, XM_011531308.2:c.1298C>T, XM_011531308.1:c.1298C>T, XM_047441900.1:c.1529C>T, NP_001412.1:p.Ala510Val, NP_001120669.1:p.Ala510Val, XP_005262446.1:p.Ala510Val, XP_011529610.1:p.Ala433Val, XP_047297856.1:p.Ala510Val

Select item 14824367563.

rs1482436756 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:130072274 (GRCh38)
X:129206249 (GRCh37)
Canonical SPDI:: NC_000023.11:130072273:C:A,NC_000023.11:130072273:C:T
Gene:: ELF4 (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)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.130072274C>A, NC_000023.11:g.130072274C>T, NC_000023.10:g.129206249C>A, NC_000023.10:g.129206249C>T, NG_016388.1:g.43440G>T, NG_016388.1:g.43440G>A, NM_001421.4:c.484G>T, NM_001421.4:c.484G>A, NM_001421.3:c.484G>T, NM_001421.3:c.484G>A, NM_001127197.2:c.484G>T, NM_001127197.2:c.484G>A, NM_001127197.1:c.484G>T, NM_001127197.1:c.484G>A, XM_005262389.4:c.484G>T, XM_005262389.4:c.484G>A, XM_005262389.3:c.484G>T, XM_005262389.3:c.484G>A, XM_005262389.2:c.484G>T, XM_005262389.2:c.484G>A, XM_005262389.1:c.484G>T, XM_005262389.1:c.484G>A, XM_011531308.4:c.253G>T, XM_011531308.4:c.253G>A, XM_011531308.3:c.253G>T, XM_011531308.3:c.253G>A, XM_011531308.2:c.253G>T, XM_011531308.2:c.253G>A, XM_011531308.1:c.253G>T, XM_011531308.1:c.253G>A, XM_047441900.1:c.484G>T, XM_047441900.1:c.484G>A, NP_001412.1:p.Ala162Ser, NP_001412.1:p.Ala162Thr, NP_001120669.1:p.Ala162Ser, NP_001120669.1:p.Ala162Thr, XP_005262446.1:p.Ala162Ser, XP_005262446.1:p.Ala162Thr, XP_011529610.1:p.Ala85Ser, XP_011529610.1:p.Ala85Thr, XP_047297856.1:p.Ala162Ser, XP_047297856.1:p.Ala162Thr

Select item 14812484524.

rs1481248452 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:130067064 (GRCh38)
X:129201039 (GRCh37)
Canonical SPDI:: NC_000023.11:130067063:A:T
Gene:: ELF4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.130067064A>T, NC_000023.10:g.129201039A>T, NG_016388.1:g.48650T>A, NM_001421.4:c.1649T>A, NM_001421.3:c.1649T>A, NM_001127197.2:c.1649T>A, NM_001127197.1:c.1649T>A, XM_005262389.4:c.1649T>A, XM_005262389.3:c.1649T>A, XM_005262389.2:c.1649T>A, XM_005262389.1:c.1649T>A, XM_011531308.4:c.1418T>A, XM_011531308.3:c.1418T>A, XM_011531308.2:c.1418T>A, XM_011531308.1:c.1418T>A, XM_047441900.1:c.1649T>A, NP_001412.1:p.Met550Lys, NP_001120669.1:p.Met550Lys, XP_005262446.1:p.Met550Lys, XP_011529610.1:p.Met473Lys, XP_047297856.1:p.Met550Lys

Select item 14784086335.

rs1478408633 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:130074585 (GRCh38)
X:129208560 (GRCh37)
Canonical SPDI:: NC_000023.11:130074584:C:A
Gene:: ELF4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.130074585C>A, NC_000023.10:g.129208560C>A, NG_016388.1:g.41129G>T, NM_001421.4:c.243G>T, NM_001421.3:c.243G>T, NM_001127197.2:c.243G>T, NM_001127197.1:c.243G>T, XM_005262389.4:c.243G>T, XM_005262389.3:c.243G>T, XM_005262389.2:c.243G>T, XM_005262389.1:c.243G>T, XM_011531308.4:c.-56G>T, XM_011531308.3:c.-56G>T, XM_011531308.2:c.-56G>T, XM_011531308.1:c.-56G>T, XM_047441900.1:c.243G>T

Select item 14780067196.

rs1478006719 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:130071148 (GRCh38)
X:129205123 (GRCh37)
Canonical SPDI:: NC_000023.11:130071147:C:T
Gene:: ELF4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000005/1 (GnomAD_exomes)
T=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.130071148C>T, NC_000023.10:g.129205123C>T, NG_016388.1:g.44566G>A, NM_001421.4:c.701G>A, NM_001421.3:c.701G>A, NM_001127197.2:c.701G>A, NM_001127197.1:c.701G>A, XM_005262389.4:c.701G>A, XM_005262389.3:c.701G>A, XM_005262389.2:c.701G>A, XM_005262389.1:c.701G>A, XM_011531308.4:c.470G>A, XM_011531308.3:c.470G>A, XM_011531308.2:c.470G>A, XM_011531308.1:c.470G>A, XM_047441900.1:c.701G>A, NP_001412.1:p.Arg234Gln, NP_001120669.1:p.Arg234Gln, XP_005262446.1:p.Arg234Gln, XP_011529610.1:p.Arg157Gln, XP_047297856.1:p.Arg234Gln

Select item 14779576397.

rs1477957639 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:130067128 (GRCh38)
X:129201103 (GRCh37)
Canonical SPDI:: NC_000023.11:130067127:C:T
Gene:: ELF4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.130067128C>T, NC_000023.10:g.129201103C>T, NG_016388.1:g.48586G>A, NM_001421.4:c.1585G>A, NM_001421.3:c.1585G>A, NM_001127197.2:c.1585G>A, NM_001127197.1:c.1585G>A, XM_005262389.4:c.1585G>A, XM_005262389.3:c.1585G>A, XM_005262389.2:c.1585G>A, XM_005262389.1:c.1585G>A, XM_011531308.4:c.1354G>A, XM_011531308.3:c.1354G>A, XM_011531308.2:c.1354G>A, XM_011531308.1:c.1354G>A, XM_047441900.1:c.1585G>A, NP_001412.1:p.Gly529Ser, NP_001120669.1:p.Gly529Ser, XP_005262446.1:p.Gly529Ser, XP_011529610.1:p.Gly452Ser, XP_047297856.1:p.Gly529Ser

Select item 14751259928.

rs1475125992 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:130074623 (GRCh38)
X:129208598 (GRCh37)
Canonical SPDI:: NC_000023.11:130074622:T:A
Gene:: ELF4 (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=0.000004/1 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.130074623T>A, NC_000023.10:g.129208598T>A, NG_016388.1:g.41091A>T, NM_001421.4:c.205A>T, NM_001421.3:c.205A>T, NM_001127197.2:c.205A>T, NM_001127197.1:c.205A>T, XM_005262389.4:c.205A>T, XM_005262389.3:c.205A>T, XM_005262389.2:c.205A>T, XM_005262389.1:c.205A>T, XM_011531308.4:c.-94A>T, XM_011531308.3:c.-94A>T, XM_011531308.2:c.-94A>T, XM_011531308.1:c.-94A>T, XM_047441900.1:c.205A>T, NP_001412.1:p.Met69Leu, NP_001120669.1:p.Met69Leu, XP_005262446.1:p.Met69Leu, XP_047297856.1:p.Met69Leu

Select item 14738653759.

rs1473865375 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:130067026 (GRCh38)
X:129201001 (GRCh37)
Canonical SPDI:: NC_000023.11:130067025:C:T
Gene:: ELF4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.130067026C>T, NC_000023.10:g.129201001C>T, NG_016388.1:g.48688G>A, NM_001421.4:c.1687G>A, NM_001421.3:c.1687G>A, NM_001127197.2:c.1687G>A, NM_001127197.1:c.1687G>A, XM_005262389.4:c.1687G>A, XM_005262389.3:c.1687G>A, XM_005262389.2:c.1687G>A, XM_005262389.1:c.1687G>A, XM_011531308.4:c.1456G>A, XM_011531308.3:c.1456G>A, XM_011531308.2:c.1456G>A, XM_011531308.1:c.1456G>A, XM_047441900.1:c.1687G>A, NP_001412.1:p.Glu563Lys, NP_001120669.1:p.Glu563Lys, XP_005262446.1:p.Glu563Lys, XP_011529610.1:p.Glu486Lys, XP_047297856.1:p.Glu563Lys

Select item 147197273110.

rs1471972731 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:130067436 (GRCh38)
X:129201411 (GRCh37)
Canonical SPDI:: NC_000023.11:130067435:G:A
Gene:: ELF4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000005/1 (GnomAD_exomes)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.130067436G>A, NC_000023.10:g.129201411G>A, NG_016388.1:g.48278C>T, NM_001421.4:c.1277C>T, NM_001421.3:c.1277C>T, NM_001127197.2:c.1277C>T, NM_001127197.1:c.1277C>T, XM_005262389.4:c.1277C>T, XM_005262389.3:c.1277C>T, XM_005262389.2:c.1277C>T, XM_005262389.1:c.1277C>T, XM_011531308.4:c.1046C>T, XM_011531308.3:c.1046C>T, XM_011531308.2:c.1046C>T, XM_011531308.1:c.1046C>T, XM_047441900.1:c.1277C>T, NP_001412.1:p.Thr426Met, NP_001120669.1:p.Thr426Met, XP_005262446.1:p.Thr426Met, XP_011529610.1:p.Thr349Met, XP_047297856.1:p.Thr426Met

Select item 147087120511.

rs1470871205 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:130074679 (GRCh38)
X:129208654 (GRCh37)
Canonical SPDI:: NC_000023.11:130074678:G:A
Gene:: ELF4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000169/2 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.130074679G>A, NC_000023.10:g.129208654G>A, NG_016388.1:g.41035C>T, NM_001421.4:c.149C>T, NM_001421.3:c.149C>T, NM_001127197.2:c.149C>T, NM_001127197.1:c.149C>T, XM_005262389.4:c.149C>T, XM_005262389.3:c.149C>T, XM_005262389.2:c.149C>T, XM_005262389.1:c.149C>T, XM_047441900.1:c.149C>T, NP_001412.1:p.Ser50Leu, NP_001120669.1:p.Ser50Leu, XP_005262446.1:p.Ser50Leu, XP_047297856.1:p.Ser50Leu

Select item 146819767312.

rs1468197673 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:130067466 (GRCh38)
X:129201441 (GRCh37)
Canonical SPDI:: NC_000023.11:130067465:G:T
Gene:: ELF4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.130067466G>T, NC_000023.10:g.129201441G>T, NG_016388.1:g.48248C>A, NM_001421.4:c.1247C>A, NM_001421.3:c.1247C>A, NM_001127197.2:c.1247C>A, NM_001127197.1:c.1247C>A, XM_005262389.4:c.1247C>A, XM_005262389.3:c.1247C>A, XM_005262389.2:c.1247C>A, XM_005262389.1:c.1247C>A, XM_011531308.4:c.1016C>A, XM_011531308.3:c.1016C>A, XM_011531308.2:c.1016C>A, XM_011531308.1:c.1016C>A, XM_047441900.1:c.1247C>A, NP_001412.1:p.Ala416Asp, NP_001120669.1:p.Ala416Asp, XP_005262446.1:p.Ala416Asp, XP_011529610.1:p.Ala339Asp, XP_047297856.1:p.Ala416Asp

Select item 146666838713.

rs1466668387 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:130067415 (GRCh38)
X:129201390 (GRCh37)
Canonical SPDI:: NC_000023.11:130067414:G:A
Gene:: ELF4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.130067415G>A, NC_000023.10:g.129201390G>A, NG_016388.1:g.48299C>T, NM_001421.4:c.1298C>T, NM_001421.3:c.1298C>T, NM_001127197.2:c.1298C>T, NM_001127197.1:c.1298C>T, XM_005262389.4:c.1298C>T, XM_005262389.3:c.1298C>T, XM_005262389.2:c.1298C>T, XM_005262389.1:c.1298C>T, XM_011531308.4:c.1067C>T, XM_011531308.3:c.1067C>T, XM_011531308.2:c.1067C>T, XM_011531308.1:c.1067C>T, XM_047441900.1:c.1298C>T, NP_001412.1:p.Pro433Leu, NP_001120669.1:p.Pro433Leu, XP_005262446.1:p.Pro433Leu, XP_011529610.1:p.Pro356Leu, XP_047297856.1:p.Pro433Leu

Select item 146447684214.

rs1464476842 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:130074123 (GRCh38)
X:129208098 (GRCh37)
Canonical SPDI:: NC_000023.11:130074122:G:A
Gene:: ELF4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.130074123G>A, NC_000023.10:g.129208098G>A, NG_016388.1:g.41591C>T, NM_001421.4:c.266C>T, NM_001421.3:c.266C>T, NM_001127197.2:c.266C>T, NM_001127197.1:c.266C>T, XM_005262389.4:c.266C>T, XM_005262389.3:c.266C>T, XM_005262389.2:c.266C>T, XM_005262389.1:c.266C>T, XM_011531308.4:c.35C>T, XM_011531308.3:c.35C>T, XM_011531308.2:c.35C>T, XM_011531308.1:c.35C>T, XM_047441900.1:c.266C>T, NP_001412.1:p.Ser89Leu, NP_001120669.1:p.Ser89Leu, XP_005262446.1:p.Ser89Leu, XP_011529610.1:p.Ser12Leu, XP_047297856.1:p.Ser89Leu

Select item 146395823215.

rs1463958232 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:130071374 (GRCh38)
X:129205349 (GRCh37)
Canonical SPDI:: NC_000023.11:130071373:G:A
Gene:: ELF4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.130071374G>A, NC_000023.10:g.129205349G>A, NG_016388.1:g.44340C>T, NM_001421.4:c.578C>T, NM_001421.3:c.578C>T, NM_001127197.2:c.578C>T, NM_001127197.1:c.578C>T, XM_005262389.4:c.578C>T, XM_005262389.3:c.578C>T, XM_005262389.2:c.578C>T, XM_005262389.1:c.578C>T, XM_011531308.4:c.347C>T, XM_011531308.3:c.347C>T, XM_011531308.2:c.347C>T, XM_011531308.1:c.347C>T, XM_047441900.1:c.578C>T, NP_001412.1:p.Pro193Leu, NP_001120669.1:p.Pro193Leu, XP_005262446.1:p.Pro193Leu, XP_011529610.1:p.Pro116Leu, XP_047297856.1:p.Pro193Leu

Select item 146314008316.

rs1463140083 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:130071116 (GRCh38)
X:129205091 (GRCh37)
Canonical SPDI:: NC_000023.11:130071115:T:C
Gene:: ELF4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.130071116T>C, NC_000023.10:g.129205091T>C, NG_016388.1:g.44598A>G, NM_001421.4:c.733A>G, NM_001421.3:c.733A>G, NM_001127197.2:c.733A>G, NM_001127197.1:c.733A>G, XM_005262389.4:c.733A>G, XM_005262389.3:c.733A>G, XM_005262389.2:c.733A>G, XM_005262389.1:c.733A>G, XM_011531308.4:c.502A>G, XM_011531308.3:c.502A>G, XM_011531308.2:c.502A>G, XM_011531308.1:c.502A>G, XM_047441900.1:c.733A>G, NP_001412.1:p.Lys245Glu, NP_001120669.1:p.Lys245Glu, XP_005262446.1:p.Lys245Glu, XP_011529610.1:p.Lys168Glu, XP_047297856.1:p.Lys245Glu

Select item 146228495117.

rs1462284951 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:130072386 (GRCh38)
X:129206361 (GRCh37)
Canonical SPDI:: NC_000023.11:130072385:G:C
Gene:: ELF4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.130072386G>C, NC_000023.10:g.129206361G>C, NG_016388.1:g.43328C>G, NM_001421.4:c.372C>G, NM_001421.3:c.372C>G, NM_001127197.2:c.372C>G, NM_001127197.1:c.372C>G, XM_005262389.4:c.372C>G, XM_005262389.3:c.372C>G, XM_005262389.2:c.372C>G, XM_005262389.1:c.372C>G, XM_011531308.4:c.141C>G, XM_011531308.3:c.141C>G, XM_011531308.2:c.141C>G, XM_011531308.1:c.141C>G, XM_047441900.1:c.372C>G, NP_001412.1:p.Asp124Glu, NP_001120669.1:p.Asp124Glu, XP_005262446.1:p.Asp124Glu, XP_011529610.1:p.Asp47Glu, XP_047297856.1:p.Asp124Glu

Select item 146223880418.

rs1462238804 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:130067361 (GRCh38)
X:129201336 (GRCh37)
Canonical SPDI:: NC_000023.11:130067360:G:C
Gene:: ELF4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.130067361G>C, NC_000023.10:g.129201336G>C, NG_016388.1:g.48353C>G, NM_001421.4:c.1352C>G, NM_001421.3:c.1352C>G, NM_001127197.2:c.1352C>G, NM_001127197.1:c.1352C>G, XM_005262389.4:c.1352C>G, XM_005262389.3:c.1352C>G, XM_005262389.2:c.1352C>G, XM_005262389.1:c.1352C>G, XM_011531308.4:c.1121C>G, XM_011531308.3:c.1121C>G, XM_011531308.2:c.1121C>G, XM_011531308.1:c.1121C>G, XM_047441900.1:c.1352C>G, NP_001412.1:p.Ser451Cys, NP_001120669.1:p.Ser451Cys, XP_005262446.1:p.Ser451Cys, XP_011529610.1:p.Ser374Cys, XP_047297856.1:p.Ser451Cys

Select item 145825005819.

rs1458250058 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:130069590 (GRCh38)
X:129203565 (GRCh37)
Canonical SPDI:: NC_000023.11:130069589:G:A
Gene:: ELF4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.130069590G>A, NC_000023.10:g.129203565G>A, NG_016388.1:g.46124C>T, NM_001421.4:c.897C>T, NM_001421.3:c.897C>T, NM_001127197.2:c.897C>T, NM_001127197.1:c.897C>T, XM_005262389.4:c.897C>T, XM_005262389.3:c.897C>T, XM_005262389.2:c.897C>T, XM_005262389.1:c.897C>T, XM_011531308.4:c.666C>T, XM_011531308.3:c.666C>T, XM_011531308.2:c.666C>T, XM_011531308.1:c.666C>T, XM_047441900.1:c.897C>T

Select item 145812127420.

rs1458121274 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:130067330 (GRCh38)
X:129201305 (GRCh37)
Canonical SPDI:: NC_000023.11:130067329:G:T
Gene:: ELF4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.130067330G>T, NC_000023.10:g.129201305G>T, NG_016388.1:g.48384C>A, NM_001421.4:c.1383C>A, NM_001421.3:c.1383C>A, NM_001127197.2:c.1383C>A, NM_001127197.1:c.1383C>A, XM_005262389.4:c.1383C>A, XM_005262389.3:c.1383C>A, XM_005262389.2:c.1383C>A, XM_005262389.1:c.1383C>A, XM_011531308.4:c.1152C>A, XM_011531308.3:c.1152C>A, XM_011531308.2:c.1152C>A, XM_011531308.1:c.1152C>A, XM_047441900.1:c.1383C>A

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