Canonical Allele Identifier: CA2843631027

Gene: GJB4 SMIM12

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34761413dup , CM000663.2:g.34761413dup	GRCh38
NC_000001.10:g.35227014dup , CM000663.1:g.35227014dup	GRCh37
NC_000001.9:g.34999601dup	NCBI36
NG_016243.1:g.6673dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339480.3:c.159dup (GJB4) MANE Select	ENSP00000345868.1:p.Asn54GlnfsTer13
ENST00000339480.1:c.159dup (GJB4)	ENSP00000345868.1:p.Asn54GlnfsTer13
ENST00000426886.1:c.208-43004dup (SMIM12)	ENSP00000429902.1:n.208-43004dup
NM_153212.2:c.159dup (GJB4)	NP_694944.1:p.Asn54GlnfsTer13
XM_011540679.1:c.159dup (GJB4)	XP_011538981.1:p.Asn54GlnfsTer13
XR_947179.1:n.1002-17964dup
XM_011540679.2:c.159dup (GJB4)	XP_011538981.1:p.Asn54GlnfsTer13
XR_001737967.1:n.1023+36958dup
NM_153212.3:c.159dup (GJB4) MANE Select	NP_694944.1:p.Asn54GlnfsTer13