Canonical Allele Identifier: CA420607040

Gene: GJA8

Linked Data

• dbSNP Id: rs1651903044
• gnomAD v4: 1-147908384-G-A
• COSMIC: COSM5558593
• MyVariant Identifiers: chr1:g.147380511G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147908384G>A , CM000663.2:g.147908384G>A	GRCh38
NC_000001.10:g.147380511G>A , CM000663.1:g.147380511G>A	GRCh37
NC_000001.9:g.145847135G>A	NCBI36
NG_016242.1:g.10566G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369235.2:c.429G>A MANE Select	ENSP00000358238.1:p.Leu143=
ENST00000369235.1:c.429G>A	ENSP00000358238.1:p.Leu143=
NM_005267.4:c.429G>A	NP_005258.2:p.Leu143=
XM_011509416.1:c.429G>A	XP_011507718.1:p.Leu143=
XM_011509417.1:c.429G>A	XP_011507719.1:p.Leu143=
XM_011509417.2:c.429G>A	XP_011507719.1:p.Leu143=
XR_002956281.1:n.1344G>A
NM_005267.5:c.429G>A MANE Select	NP_005258.2:p.Leu143=