Canonical Allele Identifier: CA1065946
Gene: GJA8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2865873
ClinVar RCV Id: RCV003619183
dbSNP Id: rs782313023
ExAC: 1:147380508 G / A
gnomAD v2: 1-147380508-G-A
gnomAD v3: 1-147908381-G-A
gnomAD v4: 1-147908381-G-A
MyVariant Identifiers: chr1:g.147380508G>A (hg19) chr1:g.147908381G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908381G>A , CM000663.2:g.147908381G>A GRCh38
NC_000001.10:g.147380508G>A , CM000663.1:g.147380508G>A GRCh37
NC_000001.9:g.145847132G>A NCBI36
NG_016242.1:g.10563G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.426G>A MANE Select ENSP00000358238.1:p.Arg142=
ENST00000369235.1:c.426G>A ENSP00000358238.1:p.Arg142=
NM_005267.4:c.426G>A NP_005258.2:p.Arg142=
XM_011509416.1:c.426G>A XP_011507718.1:p.Arg142=
XM_011509417.1:c.426G>A XP_011507719.1:p.Arg142=
XM_011509417.2:c.426G>A XP_011507719.1:p.Arg142=
XR_002956281.1:n.1341G>A
NM_005267.5:c.426G>A MANE Select NP_005258.2:p.Arg142=
Search 100 bp 5'
Search 100 bp 3'