Canonical Allele Identifier: CA9764218

Gene: JAG1

Linked Data

• ClinVar Variation Id: 500687
• ClinVar RCV Id: RCV000598181 ; RCV000810621 ; RCV002325129 ; RCV004553329
• dbSNP Id: rs377723772
• ExAC: 20:10620457 G / A
• gnomAD v2: 20-10620457-G-A
• gnomAD v3: 20-10639809-G-A
• gnomAD v4: 20-10639809-G-A
• COSMIC: COSM2702681 ; COSM2702682
• MyVariant Identifiers: chr20:g.10620457G>A (hg19) ; chr20:g.10639809G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10639809G>A , CM000682.2:g.10639809G>A	GRCh38
NC_000020.10:g.10620457G>A , CM000682.1:g.10620457G>A	GRCh37
NC_000020.9:g.10568457G>A	NCBI36
NG_007496.1:g.39238C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.3346C>T MANE Select	ENSP00000254958.4:p.Arg1116Trp
ENST00000254958.9:c.3346C>T	ENSP00000254958.4:p.Arg1116Trp
ENST00000423891.6:n.3212C>T
NM_000214.2:c.3346C>T	NP_000205.1:p.Arg1116Trp
NM_000214.3:c.3346C>T MANE Select	NP_000205.1:p.Arg1116Trp