Canonical Allele Identifier: CA320391
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 213565
ClinVar RCV Id: RCV000195999
dbSNP Id: rs863223678
COSMIC: COSM1483424 COSM1483425
MyVariant Identifiers: chr20:g.10639266G>A (hg19) chr20:g.10658618G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658618G>A , CM000682.2:g.10658618G>A GRCh38
NC_000020.10:g.10639266G>A , CM000682.1:g.10639266G>A GRCh37
NC_000020.9:g.10587266G>A NCBI36
NG_007496.1:g.20429C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.544C>T MANE Select ENSP00000254958.4:p.Gln182Ter
ENST00000254958.9:c.544C>T ENSP00000254958.4:p.Gln182Ter
ENST00000423891.6:n.410C>T
NM_000214.2:c.544C>T NP_000205.1:p.Gln182Ter
NM_000214.3:c.544C>T MANE Select NP_000205.1:p.Gln182Ter
Search 100 bp 5'
Search 100 bp 3'