Canonical Allele Identifier: CA754504
Gene: GJB4 HGNC NCBI
SMIM12 HGNC NCBI

Linked Data

ClinVar Variation Id: 2414795
ClinVar RCV Id: RCV003108630
dbSNP Id: rs765604383
ExAC: 1:35227042 G / A
gnomAD v2: 1-35227042-G-A
gnomAD v3: 1-34761441-G-A
gnomAD v4: 1-34761441-G-A
COSMIC: COSM5025240
MyVariant Identifiers: chr1:g.35227042G>A (hg19) chr1:g.34761441G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34761441G>A , CM000663.2:g.34761441G>A GRCh38
NC_000001.10:g.35227042G>A , CM000663.1:g.35227042G>A GRCh37
NC_000001.9:g.34999629G>A NCBI36
NG_016243.1:g.6701G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000339480.3:c.187G>A (GJB4) MANE Select ENSP00000345868.1:p.Val63Ile
ENST00000339480.1:c.187G>A (GJB4) ENSP00000345868.1:p.Val63Ile
ENST00000426886.1:c.208-43032C>T (SMIM12) ENSP00000429902.1:n.208-43032C>T
NM_153212.2:c.187G>A (GJB4) NP_694944.1:p.Val63Ile
XM_011540679.1:c.187G>A (GJB4) XP_011538981.1:p.Val63Ile
XR_947179.1:n.1002-17992C>T
XM_011540679.2:c.187G>A (GJB4) XP_011538981.1:p.Val63Ile
XR_001737967.1:n.1023+36930C>T
NM_153212.3:c.187G>A (GJB4) MANE Select NP_694944.1:p.Val63Ile
Search 100 bp 5'
Search 100 bp 3'