Canonical Allele Identifier: CA420606819
Gene: GJA8 HGNC NCBI

Linked Data

dbSNP Id: rs1651881451
gnomAD v4: 1-147908153-C-T
COSMIC: COSM4021848
MyVariant Identifiers: chr1:g.147380280C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908153C>T , CM000663.2:g.147908153C>T GRCh38
NC_000001.10:g.147380280C>T , CM000663.1:g.147380280C>T GRCh37
NC_000001.9:g.145846904C>T NCBI36
NG_016242.1:g.10335C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.198C>T MANE Select ENSP00000358238.1:p.Tyr66=
ENST00000369235.1:c.198C>T ENSP00000358238.1:p.Tyr66=
NM_005267.4:c.198C>T NP_005258.2:p.Tyr66=
XM_011509416.1:c.198C>T XP_011507718.1:p.Tyr66=
XM_011509417.1:c.198C>T XP_011507719.1:p.Tyr66=
XM_011509417.2:c.198C>T XP_011507719.1:p.Tyr66=
XR_002956281.1:n.1113C>T
NM_005267.5:c.198C>T MANE Select NP_005258.2:p.Tyr66=
Search 100 bp 5'
Search 100 bp 3'