Canonical Allele Identifier: CA10608050
Gene: GJA8 HGNC NCBI

Linked Data

ClinVar Variation Id: 292465
ClinVar RCV Id: RCV000310371 RCV000367347
dbSNP Id: rs886045254
gnomAD v3: 1-147908255-C-T
gnomAD v4: 1-147908255-C-T
COSMIC: COSM4392546
MyVariant Identifiers: chr1:g.147380382C>T (hg19) chr1:g.147908255C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908255C>T , CM000663.2:g.147908255C>T GRCh38
NC_000001.10:g.147380382C>T , CM000663.1:g.147380382C>T GRCh37
NC_000001.9:g.145847006C>T NCBI36
NG_016242.1:g.10437C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.300C>T MANE Select ENSP00000358238.1:p.Val100=
ENST00000369235.1:c.300C>T ENSP00000358238.1:p.Val100=
NM_005267.4:c.300C>T NP_005258.2:p.Val100=
XM_011509416.1:c.300C>T XP_011507718.1:p.Val100=
XM_011509417.1:c.300C>T XP_011507719.1:p.Val100=
XM_011509417.2:c.300C>T XP_011507719.1:p.Val100=
XR_002956281.1:n.1215C>T
NM_005267.5:c.300C>T MANE Select NP_005258.2:p.Val100=
Search 100 bp 5'
Search 100 bp 3'