Canonical Allele Identifier: CA342223601
Gene: GJA8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1328353
ClinVar RCV Id: RCV001795785
dbSNP Id: rs2149015516
COSMIC: COSM1333686
MyVariant Identifiers: chr1:g.147380309G>A (hg19) chr1:g.147908182G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908182G>A , CM000663.2:g.147908182G>A GRCh38
NC_000001.10:g.147380309G>A , CM000663.1:g.147380309G>A GRCh37
NC_000001.9:g.145846933G>A NCBI36
NG_016242.1:g.10364G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.227G>A MANE Select ENSP00000358238.1:p.Arg76His
ENST00000369235.1:c.227G>A ENSP00000358238.1:p.Arg76His
NM_005267.4:c.227G>A NP_005258.2:p.Arg76His
XM_011509416.1:c.227G>A XP_011507718.1:p.Arg76His
XM_011509417.1:c.227G>A XP_011507719.1:p.Arg76His
XM_011509417.2:c.227G>A XP_011507719.1:p.Arg76His
XR_002956281.1:n.1142G>A
NM_005267.5:c.227G>A MANE Select NP_005258.2:p.Arg76His
Search 100 bp 5'
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