Canonical Allele Identifier: CA342222851
Gene: GJA8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2547546
ClinVar RCV Id: RCV003257672
dbSNP Id: rs1553242513
gnomAD v2: 1-147380117-A-G
gnomAD v4: 1-147907990-A-G
MyVariant Identifiers: chr1:g.147380117A>G (hg19) chr1:g.147907990A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147907990A>G , CM000663.2:g.147907990A>G GRCh38
NC_000001.10:g.147380117A>G , CM000663.1:g.147380117A>G GRCh37
NC_000001.9:g.145846741A>G NCBI36
NG_016242.1:g.10172A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.35A>G MANE Select ENSP00000358238.1:p.Glu12Gly
ENST00000369235.1:c.35A>G ENSP00000358238.1:p.Glu12Gly
NM_005267.4:c.35A>G NP_005258.2:p.Glu12Gly
XM_011509416.1:c.35A>G XP_011507718.1:p.Glu12Gly
XM_011509417.1:c.35A>G XP_011507719.1:p.Glu12Gly
XM_011509417.2:c.35A>G XP_011507719.1:p.Glu12Gly
XR_002956281.1:n.950A>G
NM_005267.5:c.35A>G MANE Select NP_005258.2:p.Glu12Gly
Search 100 bp 5'
Search 100 bp 3'