Canonical Allele Identifier: CA117200

Gene: GJB4 SMIM12

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34761663T>C , CM000663.2:g.34761663T>C	GRCh38
NC_000001.10:g.35227264T>C , CM000663.1:g.35227264T>C	GRCh37
NC_000001.9:g.34999851T>C	NCBI36
NG_016243.1:g.6923T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_153212.3:c.409T>C (GJB4) MANE Select	NP_694944.1:p.Phe137Leu
ENST00000339480.3:c.409T>C (GJB4) MANE Select	ENSP00000345868.1:p.Phe137Leu
NM_153212.2:c.409T>C (GJB4)	NP_694944.1:p.Phe137Leu
ENST00000339480.1:c.409T>C (GJB4)	ENSP00000345868.1:p.Phe137Leu
ENST00000426886.1:c.208-43254A>G (SMIM12)	ENSP00000429902.1:n.208-43254A>G
XM_011540679.1:c.409T>C (GJB4)	XP_011538981.1:p.Phe137Leu
XM_011540679.2:c.409T>C (GJB4)	XP_011538981.1:p.Phe137Leu
XR_001737967.1:n.1023+36708A>G
XR_947179.1:n.1002-18214A>G