Canonical Allele Identifier: CA339300661

Gene: GJB4 SMIM12

Linked Data

• dbSNP Id: rs1262958386
• gnomAD v2: 1-35227081-C-T
• gnomAD v4: 1-34761480-C-T
• MyVariant Identifiers: chr1:g.35227081C>T (hg19) ; chr1:g.34761480C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34761480C>T , CM000663.2:g.34761480C>T	GRCh38
NC_000001.10:g.35227081C>T , CM000663.1:g.35227081C>T	GRCh37
NC_000001.9:g.34999668C>T	NCBI36
NG_016243.1:g.6740C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339480.3:c.226C>T (GJB4) MANE Select	ENSP00000345868.1:p.Leu76Phe
ENST00000339480.1:c.226C>T (GJB4)	ENSP00000345868.1:p.Leu76Phe
ENST00000426886.1:c.208-43071G>A (SMIM12)	ENSP00000429902.1:n.208-43071G>A
NM_153212.2:c.226C>T (GJB4)	NP_694944.1:p.Leu76Phe
XM_011540679.1:c.226C>T (GJB4)	XP_011538981.1:p.Leu76Phe
XR_947179.1:n.1002-18031G>A
XM_011540679.2:c.226C>T (GJB4)	XP_011538981.1:p.Leu76Phe
XR_001737967.1:n.1023+36891G>A
NM_153212.3:c.226C>T (GJB4) MANE Select	NP_694944.1:p.Leu76Phe