Canonical Allele Identifier: CA1065852

Gene: GJA8

Linked Data

• ClinVar Variation Id: 772629
• ClinVar RCV Id: RCV000952233 ; RCV003943050
• dbSNP Id: rs150441169
• ExAC: 1:147380101 C / A
• gnomAD v2: 1-147380101-C-A
• gnomAD v3: 1-147907974-C-A
• gnomAD v4: 1-147907974-C-A
• COSMIC: COSM1580943
• MyVariant Identifiers: chr1:g.147380101C>A (hg19) ; chr1:g.147907974C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147907974C>A , CM000663.2:g.147907974C>A	GRCh38
NC_000001.10:g.147380101C>A , CM000663.1:g.147380101C>A	GRCh37
NC_000001.9:g.145846725C>A	NCBI36
NG_016242.1:g.10156C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369235.2:c.19C>A MANE Select	ENSP00000358238.1:p.Leu7Met
ENST00000369235.1:c.19C>A	ENSP00000358238.1:p.Leu7Met
NM_005267.4:c.19C>A	NP_005258.2:p.Leu7Met
XM_011509416.1:c.19C>A	XP_011507718.1:p.Leu7Met
XM_011509417.1:c.19C>A	XP_011507719.1:p.Leu7Met
XM_011509417.2:c.19C>A	XP_011507719.1:p.Leu7Met
XR_002956281.1:n.934C>A
NM_005267.5:c.19C>A MANE Select	NP_005258.2:p.Leu7Met