Canonical Allele Identifier: CA339301789

Gene: GJB4 SMIM12

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34761665C>G , CM000663.2:g.34761665C>G	GRCh38
NC_000001.10:g.35227266C>G , CM000663.1:g.35227266C>G	GRCh37
NC_000001.9:g.34999853C>G	NCBI36
NG_016243.1:g.6925C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_153212.3:c.411C>G (GJB4) MANE Select	NP_694944.1:p.Phe137Leu
ENST00000339480.3:c.411C>G (GJB4) MANE Select	ENSP00000345868.1:p.Phe137Leu
NM_153212.2:c.411C>G (GJB4)	NP_694944.1:p.Phe137Leu
ENST00000339480.1:c.411C>G (GJB4)	ENSP00000345868.1:p.Phe137Leu
ENST00000426886.1:c.208-43256G>C (SMIM12)	ENSP00000429902.1:n.208-43256G>C
XM_011540679.1:c.411C>G (GJB4)	XP_011538981.1:p.Phe137Leu
XM_011540679.2:c.411C>G (GJB4)	XP_011538981.1:p.Phe137Leu
XR_001737967.1:n.1023+36706G>C
XR_947179.1:n.1002-18216G>C