Canonical Allele Identifier: CA9764231

Gene: JAG1

Linked Data

• ClinVar Variation Id: 497732
• ClinVar RCV Id: RCV000595584 ; RCV000864526 ; RCV001712606 ; RCV004553312 ; RCV004024717
• dbSNP Id: rs200949270
• ExAC: 20:10620507 G / A
• gnomAD v2: 20-10620507-G-A
• gnomAD v3: 20-10639859-G-A
• gnomAD v4: 20-10639859-G-A
• MyVariant Identifiers: chr20:g.10620507G>A (hg19) ; chr20:g.10620507_10620516delinsAGCTTCCGCC (hg19) ; chr20:g.10639859G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10639859G>A , CM000682.2:g.10639859G>A	GRCh38
NC_000020.10:g.10620507G>A , CM000682.1:g.10620507G>A	GRCh37
NC_000020.9:g.10568507G>A	NCBI36
NG_007496.1:g.39188C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.3296C>T MANE Select	ENSP00000254958.4:p.Pro1099Leu
ENST00000254958.9:c.3296C>T	ENSP00000254958.4:p.Pro1099Leu
ENST00000423891.6:n.3162C>T
NM_000214.2:c.3296C>T	NP_000205.1:p.Pro1099Leu
NM_000214.3:c.3296C>T MANE Select	NP_000205.1:p.Pro1099Leu