Canonical Allele Identifier: CA342223595
Gene: GJA8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1454428
ClinVar RCV Id: RCV001941871
dbSNP Id: rs1553242577
COSMIC: COSM275294
MyVariant Identifiers: chr1:g.147380308C>T (hg19) chr1:g.147908181C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908181C>T , CM000663.2:g.147908181C>T GRCh38
NC_000001.10:g.147380308C>T , CM000663.1:g.147380308C>T GRCh37
NC_000001.9:g.145846932C>T NCBI36
NG_016242.1:g.10363C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.226C>T MANE Select ENSP00000358238.1:p.Arg76Cys
ENST00000369235.1:c.226C>T ENSP00000358238.1:p.Arg76Cys
NM_005267.4:c.226C>T NP_005258.2:p.Arg76Cys
XM_011509416.1:c.226C>T XP_011507718.1:p.Arg76Cys
XM_011509417.1:c.226C>T XP_011507719.1:p.Arg76Cys
XM_011509417.2:c.226C>T XP_011507719.1:p.Arg76Cys
XR_002956281.1:n.1141C>T
NM_005267.5:c.226C>T MANE Select NP_005258.2:p.Arg76Cys
Search 100 bp 5'
Search 100 bp 3'