Canonical Allele Identifier: CA117202
Gene: GJB4 HGNC NCBI
SMIM12 HGNC NCBI

Linked Data

ClinVar Variation Id: 5006
ClinVar RCV Id: RCV000005309 RCV000413053
dbSNP Id: rs80358210
MyVariant Identifiers: chr1:g.35227108A>C (hg19) chr1:g.34761507A>C (hg38)
PubMed: PMID:12648223
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34761507A>C , CM000663.2:g.34761507A>C GRCh38
NC_000001.10:g.35227108A>C , CM000663.1:g.35227108A>C GRCh37
NC_000001.9:g.34999695A>C NCBI36
NG_016243.1:g.6767A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000339480.3:c.253A>C (GJB4) MANE Select ENSP00000345868.1:p.Thr85Pro
ENST00000339480.1:c.253A>C (GJB4) ENSP00000345868.1:p.Thr85Pro
ENST00000426886.1:c.208-43098T>G (SMIM12) ENSP00000429902.1:n.208-43098T>G
NM_153212.2:c.253A>C (GJB4) NP_694944.1:p.Thr85Pro
XM_011540679.1:c.253A>C (GJB4) XP_011538981.1:p.Thr85Pro
XR_947179.1:n.1002-18058T>G
XM_011540679.2:c.253A>C (GJB4) XP_011538981.1:p.Thr85Pro
XR_001737967.1:n.1023+36864T>G
NM_153212.3:c.253A>C (GJB4) MANE Select NP_694944.1:p.Thr85Pro
Search 100 bp 5'
Search 100 bp 3'