Canonical Allele Identifier: CA250006

Gene: GJA8

Linked Data

• ClinVar Variation Id: 217323
• ClinVar RCV Id: RCV000203393 ; RCV000260914 ; RCV000371883 ; RCV000423334 ; RCV002478715 ; RCV003937758
• dbSNP Id: rs138140155
• ExAC: 1:147380740 A / G
• gnomAD v2: 1-147380740-A-G
• gnomAD v3: 1-147908613-A-G
• gnomAD v4: 1-147908613-A-G
• MyVariant Identifiers: chr1:g.147380740A>G (hg19) ; chr1:g.147908613A>G (hg38)
• PubMed: PMID:26694549

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147908613A>G , CM000663.2:g.147908613A>G	GRCh38
NC_000001.10:g.147380740A>G , CM000663.1:g.147380740A>G	GRCh37
NC_000001.9:g.145847364A>G	NCBI36
NG_016242.1:g.10795A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369235.2:c.658A>G MANE Select	ENSP00000358238.1:p.Asn220Asp
ENST00000369235.1:c.658A>G	ENSP00000358238.1:p.Asn220Asp
NM_005267.4:c.658A>G	NP_005258.2:p.Asn220Asp
XM_011509416.1:c.658A>G	XP_011507718.1:p.Asn220Asp
XM_011509417.1:c.658A>G	XP_011507719.1:p.Asn220Asp
XM_011509417.2:c.658A>G	XP_011507719.1:p.Asn220Asp
XR_002956281.1:n.1573A>G
NM_005267.5:c.658A>G MANE Select	NP_005258.2:p.Asn220Asp