Canonical Allele Identifier: CA1065855
Gene: GJA8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2590989
ClinVar RCV Id: RCV003353569
dbSNP Id: rs149980128
ExAC: 1:147380121 G / C
gnomAD v2: 1-147380121-G-C
gnomAD v3: 1-147907994-G-C
gnomAD v4: 1-147907994-G-C
MyVariant Identifiers: chr1:g.147380121G>C (hg19) chr1:g.147907994G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147907994G>C , CM000663.2:g.147907994G>C GRCh38
NC_000001.10:g.147380121G>C , CM000663.1:g.147380121G>C GRCh37
NC_000001.9:g.145846745G>C NCBI36
NG_016242.1:g.10176G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.39G>C MANE Select ENSP00000358238.1:p.Glu13Asp
ENST00000369235.1:c.39G>C ENSP00000358238.1:p.Glu13Asp
NM_005267.4:c.39G>C NP_005258.2:p.Glu13Asp
XM_011509416.1:c.39G>C XP_011507718.1:p.Glu13Asp
XM_011509417.1:c.39G>C XP_011507719.1:p.Glu13Asp
XM_011509417.2:c.39G>C XP_011507719.1:p.Glu13Asp
XR_002956281.1:n.954G>C
NM_005267.5:c.39G>C MANE Select NP_005258.2:p.Glu13Asp
Search 100 bp 5'
Search 100 bp 3'