Canonical Allele Identifier: CA245082

Gene: JAG1

Linked Data

• ClinVar Variation Id: 197123
• ClinVar RCV Id: RCV001175471 ; RCV003407657
• dbSNP Id: rs794727618
• gnomAD v4: 20-10658561-G-A
• MyVariant Identifiers: chr20:g.10639209G>A (hg19) ; chr20:g.10658561G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10658561G>A , CM000682.2:g.10658561G>A	GRCh38
NC_000020.10:g.10639209G>A , CM000682.1:g.10639209G>A	GRCh37
NC_000020.9:g.10587209G>A	NCBI36
NG_007496.1:g.20486C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000254958.10:c.601C>T MANE Select	ENSP00000254958.4:p.Arg201Cys
ENST00000254958.9:c.601C>T	ENSP00000254958.4:p.Arg201Cys
ENST00000423891.6:n.467C>T
NM_000214.2:c.601C>T	NP_000205.1:p.Arg201Cys
NM_000214.3:c.601C>T MANE Select	NP_000205.1:p.Arg201Cys