Canonical Allele Identifier: CA1144002924

Gene: GJA8

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147908295C= , CM000663.2:g.147908295C=	GRCh38
NC_000001.10:g.147380422C= , CM000663.1:g.147380422C=	GRCh37
NC_000001.9:g.145847046C=	NCBI36
NG_016242.1:g.10477C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369235.2:c.340C= MANE Select	ENSP00000358238.1:p.Leu114=
ENST00000369235.1:c.340C=	ENSP00000358238.1:p.Leu114=
NM_005267.4:c.340C=	NP_005258.2:p.Leu114=
XM_011509416.1:c.340C=	XP_011507718.1:p.Leu114=
XM_011509417.1:c.340C=	XP_011507719.1:p.Leu114=
XM_011509417.2:c.340C=	XP_011507719.1:p.Leu114=
XR_002956281.1:n.1255C=
NM_005267.5:c.340C= MANE Select	NP_005258.2:p.Leu114=