Canonical Allele Identifier: CA9764237

Gene: JAG1

Linked Data

• ClinVar Variation Id: 500777
• ClinVar RCV Id: RCV000597293 ; RCV001401841 ; RCV004553330
• dbSNP Id: rs75652750
• ExAC: 20:10620523 G / A
• gnomAD v2: 20-10620523-G-A
• gnomAD v3: 20-10639875-G-A
• gnomAD v4: 20-10639875-G-A
• MyVariant Identifiers: chr20:g.10620523G>A (hg19) ; chr20:g.10639875G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10639875G>A , CM000682.2:g.10639875G>A	GRCh38
NC_000020.10:g.10620523G>A , CM000682.1:g.10620523G>A	GRCh37
NC_000020.9:g.10568523G>A	NCBI36
NG_007496.1:g.39172C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.3280C>T MANE Select	ENSP00000254958.4:p.Arg1094Trp
ENST00000254958.9:c.3280C>T	ENSP00000254958.4:p.Arg1094Trp
ENST00000423891.6:n.3146C>T
ENST00000617357.1:n.575C>T
NM_000214.2:c.3280C>T	NP_000205.1:p.Arg1094Trp
NM_000214.3:c.3280C>T MANE Select	NP_000205.1:p.Arg1094Trp