Canonical Allele Identifier: CA420606889

Gene: GJA8

Linked Data

• dbSNP Id: rs1553242599
• gnomAD v2: 1-147380364-G-A
• gnomAD v3: 1-147908237-G-A
• gnomAD v4: 1-147908237-G-A
• MyVariant Identifiers: chr1:g.147380364G>A (hg19) ; chr1:g.147908237G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147908237G>A , CM000663.2:g.147908237G>A	GRCh38
NC_000001.10:g.147380364G>A , CM000663.1:g.147380364G>A	GRCh37
NC_000001.9:g.145846988G>A	NCBI36
NG_016242.1:g.10419G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369235.2:c.282G>A MANE Select	ENSP00000358238.1:p.Gly94=
ENST00000369235.1:c.282G>A	ENSP00000358238.1:p.Gly94=
NM_005267.4:c.282G>A	NP_005258.2:p.Gly94=
XM_011509416.1:c.282G>A	XP_011507718.1:p.Gly94=
XM_011509417.1:c.282G>A	XP_011507719.1:p.Gly94=
XM_011509417.2:c.282G>A	XP_011507719.1:p.Gly94=
XR_002956281.1:n.1197G>A
NM_005267.5:c.282G>A MANE Select	NP_005258.2:p.Gly94=