Canonical Allele Identifier: CA408240208
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1023815
ClinVar RCV Id: RCV001323921
dbSNP Id: rs2067393579
COSMIC: COSM1294001 COSM1294002
MyVariant Identifiers: chr20:g.10639235T>C (hg19) chr20:g.10658587T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658587T>C , CM000682.2:g.10658587T>C GRCh38
NC_000020.10:g.10639235T>C , CM000682.1:g.10639235T>C GRCh37
NC_000020.9:g.10587235T>C NCBI36
NG_007496.1:g.20460A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.575A>G MANE Select ENSP00000254958.4:p.Tyr192Cys
ENST00000254958.9:c.575A>G ENSP00000254958.4:p.Tyr192Cys
ENST00000423891.6:n.441A>G
NM_000214.2:c.575A>G NP_000205.1:p.Tyr192Cys
NM_000214.3:c.575A>G MANE Select NP_000205.1:p.Tyr192Cys
Search 100 bp 5'
Search 100 bp 3'