Canonical Allele Identifier: CA321985
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 213566
ClinVar RCV Id: RCV000197516
dbSNP Id: rs863223679

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658536T>C , CM000682.2:g.10658536T>C GRCh38
NC_000020.10:g.10639184T>C , CM000682.1:g.10639184T>C GRCh37
NC_000020.9:g.10587184T>C NCBI36
NG_007496.1:g.20511A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.626A>G MANE Select ENSP00000254958.4:p.His209Arg
ENST00000254958.9:c.626A>G ENSP00000254958.4:p.His209Arg
ENST00000423891.6:n.492A>G
NM_000214.2:c.626A>G NP_000205.1:p.His209Arg
NM_000214.3:c.626A>G MANE Select NP_000205.1:p.His209Arg