Canonical Allele Identifier: CA342223809
Gene: GJA8 HGNC NCBI

Linked Data

ClinVar Variation Id: 932290
ClinVar RCV Id: RCV001200028
dbSNP Id: rs1651887395

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908235G>C , CM000663.2:g.147908235G>C GRCh38
NC_000001.10:g.147380362G>C , CM000663.1:g.147380362G>C GRCh37
NC_000001.9:g.145846986G>C NCBI36
NG_016242.1:g.10417G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.280G>C MANE Select ENSP00000358238.1:p.Gly94Arg
ENST00000369235.1:c.280G>C ENSP00000358238.1:p.Gly94Arg
NM_005267.4:c.280G>C NP_005258.2:p.Gly94Arg
XM_011509416.1:c.280G>C XP_011507718.1:p.Gly94Arg
XM_011509417.1:c.280G>C XP_011507719.1:p.Gly94Arg
XM_011509417.2:c.280G>C XP_011507719.1:p.Gly94Arg
XR_002956281.1:n.1195G>C
NM_005267.5:c.280G>C MANE Select NP_005258.2:p.Gly94Arg