Canonical Allele Identifier: CA754474
Gene: GJB4 HGNC NCBI
SMIM12 HGNC NCBI

Linked Data

ClinVar Variation Id: 225376
ClinVar RCV Id: RCV000490427 RCV002054359
dbSNP Id: rs146378222
ExAC: 1:35226964 G / A
gnomAD v2: 1-35226964-G-A
gnomAD v3: 1-34761363-G-A
gnomAD v4: 1-34761363-G-A
MyVariant Identifiers: chr1:g.35226964G>A (hg19) chr1:g.34761363G>A (hg38)
PubMed: PMID:17259707 PMID:25333454
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34761363G>A , CM000663.2:g.34761363G>A GRCh38
NC_000001.10:g.35226964G>A , CM000663.1:g.35226964G>A GRCh37
NC_000001.9:g.34999551G>A NCBI36
NG_016243.1:g.6623G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000339480.3:c.109G>A (GJB4) MANE Select ENSP00000345868.1:p.Val37Met
ENST00000339480.1:c.109G>A (GJB4) ENSP00000345868.1:p.Val37Met
ENST00000426886.1:c.208-42954C>T (SMIM12) ENSP00000429902.1:n.208-42954C>T
NM_153212.2:c.109G>A (GJB4) NP_694944.1:p.Val37Met
XM_011540679.1:c.109G>A (GJB4) XP_011538981.1:p.Val37Met
XR_947179.1:n.1002-17914C>T
XM_011540679.2:c.109G>A (GJB4) XP_011538981.1:p.Val37Met
XR_001737967.1:n.1023+37008C>T
NM_153212.3:c.109G>A (GJB4) MANE Select NP_694944.1:p.Val37Met
Search 100 bp 5'
Search 100 bp 3'