Canonical Allele Identifier: CA1139656298

Gene: GJA8

Linked Data

• ClinVar Variation Id: 876076
• ClinVar RCV Id: RCV001100491
• dbSNP Id: rs1651864498
• gnomAD v4: 1-147907941-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147907941T>G , CM000663.2:g.147907941T>G	GRCh38
NC_000001.10:g.147380068T>G , CM000663.1:g.147380068T>G	GRCh37
NC_000001.9:g.145846692T>G	NCBI36
NG_016242.1:g.10123T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369235.2:c.-11-4T>G MANE Select	ENSP00000358238.1:n.-11-4T>G
NM_005267.4:c.-11-4T>G	NP_005258.2:n.-11-4T>G
XM_011509416.1:c.-15T>G	XP_011507718.1:n.-15T>G
XM_011509417.1:c.-15T>G	XP_011507719.1:n.-15T>G
XM_011509417.2:c.-15T>G	XP_011507719.1:n.-15T>G
XR_002956281.1:n.901T>G
NM_005267.5:c.-11-4T>G MANE Select	NP_005258.2:n.-11-4T>G