Canonical Allele Identifier: CA1065872
Gene: GJA8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2740113
ClinVar RCV Id: RCV003509164
dbSNP Id: rs782542091
ExAC: 1:147380204 C / T
gnomAD v2: 1-147380204-C-T
gnomAD v3: 1-147908077-C-T
gnomAD v4: 1-147908077-C-T
MyVariant Identifiers: chr1:g.147380204C>T (hg19) chr1:g.147908077C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908077C>T , CM000663.2:g.147908077C>T GRCh38
NC_000001.10:g.147380204C>T , CM000663.1:g.147380204C>T GRCh37
NC_000001.9:g.145846828C>T NCBI36
NG_016242.1:g.10259C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.122C>T MANE Select ENSP00000358238.1:p.Ala41Val
ENST00000369235.1:c.122C>T ENSP00000358238.1:p.Ala41Val
NM_005267.4:c.122C>T NP_005258.2:p.Ala41Val
XM_011509416.1:c.122C>T XP_011507718.1:p.Ala41Val
XM_011509417.1:c.122C>T XP_011507719.1:p.Ala41Val
XM_011509417.2:c.122C>T XP_011507719.1:p.Ala41Val
XR_002956281.1:n.1037C>T
NM_005267.5:c.122C>T MANE Select NP_005258.2:p.Ala41Val
Search 100 bp 5'
Search 100 bp 3'