Canonical Allele Identifier: CA9765117

Gene: JAG1

Linked Data

• ClinVar Variation Id: 2049576
• ClinVar RCV Id: RCV002914086 ; RCV004066257 ; RCV004548405
• dbSNP Id: rs745324562
• ExAC: 20:10639304 G / A
• gnomAD v2: 20-10639304-G-A
• gnomAD v3: 20-10658656-G-A
• gnomAD v4: 20-10658656-G-A
• COSMIC: COSM4693727 ; COSM4693728
• MyVariant Identifiers: chr20:g.10639304G>A (hg19) ; chr20:g.10658656G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10658656G>A , CM000682.2:g.10658656G>A	GRCh38
NC_000020.10:g.10639304G>A , CM000682.1:g.10639304G>A	GRCh37
NC_000020.9:g.10587304G>A	NCBI36
NG_007496.1:g.20391C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.506C>T MANE Select	ENSP00000254958.4:p.Thr169Met
ENST00000254958.9:c.506C>T	ENSP00000254958.4:p.Thr169Met
ENST00000423891.6:n.372C>T
NM_000214.2:c.506C>T	NP_000205.1:p.Thr169Met
NM_000214.3:c.506C>T MANE Select	NP_000205.1:p.Thr169Met