Canonical Allele Identifier: CA1065943
Gene: GJA8 HGNC NCBI

Linked Data

ClinVar Variation Id: 876078
ClinVar RCV Id: RCV001100493
dbSNP Id: rs782388266
ExAC: 1:147380493 C / A
gnomAD v2: 1-147380493-C-A
gnomAD v4: 1-147908366-C-A
MyVariant Identifiers: chr1:g.147380493C>A (hg19) chr1:g.147908366C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908366C>A , CM000663.2:g.147908366C>A GRCh38
NC_000001.10:g.147380493C>A , CM000663.1:g.147380493C>A GRCh37
NC_000001.9:g.145847117C>A NCBI36
NG_016242.1:g.10548C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.411C>A MANE Select ENSP00000358238.1:p.Gly137=
ENST00000369235.1:c.411C>A ENSP00000358238.1:p.Gly137=
NM_005267.4:c.411C>A NP_005258.2:p.Gly137=
XM_011509416.1:c.411C>A XP_011507718.1:p.Gly137=
XM_011509417.1:c.411C>A XP_011507719.1:p.Gly137=
XM_011509417.2:c.411C>A XP_011507719.1:p.Gly137=
XR_002956281.1:n.1326C>A
NM_005267.5:c.411C>A MANE Select NP_005258.2:p.Gly137=
Search 100 bp 5'
Search 100 bp 3'