Canonical Allele Identifier: CA339300501

Gene: GJB4 SMIM12

Linked Data

• MyVariant Identifiers: chr1:g.35227062C>A (hg19) ; chr1:g.34761461C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34761461C>A , CM000663.2:g.34761461C>A	GRCh38
NC_000001.10:g.35227062C>A , CM000663.1:g.35227062C>A	GRCh37
NC_000001.9:g.34999649C>A	NCBI36
NG_016243.1:g.6721C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339480.3:c.207C>A (GJB4) MANE Select	ENSP00000345868.1:p.Phe69Leu
ENST00000339480.1:c.207C>A (GJB4)	ENSP00000345868.1:p.Phe69Leu
ENST00000426886.1:c.208-43052G>T (SMIM12)	ENSP00000429902.1:n.208-43052G>T
NM_153212.2:c.207C>A (GJB4)	NP_694944.1:p.Phe69Leu
XM_011540679.1:c.207C>A (GJB4)	XP_011538981.1:p.Phe69Leu
XR_947179.1:n.1002-18012G>T
XM_011540679.2:c.207C>A (GJB4)	XP_011538981.1:p.Phe69Leu
XR_001737967.1:n.1023+36910G>T
NM_153212.3:c.207C>A (GJB4) MANE Select	NP_694944.1:p.Phe69Leu