Canonical Allele Identifier: CA2647662025

Gene: GJA8

Linked Data

• gnomAD v4: 1-147908391-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147908394del , CM000663.2:g.147908394del	GRCh38
NC_000001.10:g.147380521del , CM000663.1:g.147380521del	GRCh37
NC_000001.9:g.145847145del	NCBI36
NG_016242.1:g.10576del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369235.2:c.439del MANE Select	ENSP00000358238.1:p.Leu147CysfsTer2
ENST00000369235.1:c.439del	ENSP00000358238.1:p.Leu147CysfsTer2
NM_005267.4:c.439del	NP_005258.2:p.Leu147CysfsTer2
XM_011509416.1:c.439del	XP_011507718.1:p.Leu147CysfsTer2
XM_011509417.1:c.439del	XP_011507719.1:p.Leu147CysfsTer2
XM_011509417.2:c.439del	XP_011507719.1:p.Leu147CysfsTer2
XR_002956281.1:n.1354del
NM_005267.5:c.439del MANE Select	NP_005258.2:p.Leu147CysfsTer2