Canonical Allele Identifier: CA9765115

Gene: JAG1

Linked Data

• ClinVar Variation Id: 499992
• ClinVar RCV Id: RCV000658070 ; RCV000697734 ; RCV002491201
• dbSNP Id: rs144999773
• ExAC: 20:10639289 G / A
• gnomAD v2: 20-10639289-G-A
• gnomAD v3: 20-10658641-G-A
• gnomAD v4: 20-10658641-G-A
• MyVariant Identifiers: chr20:g.10639289G>A (hg19) ; chr20:g.10658641G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10658641G>A , CM000682.2:g.10658641G>A	GRCh38
NC_000020.10:g.10639289G>A , CM000682.1:g.10639289G>A	GRCh37
NC_000020.9:g.10587289G>A	NCBI36
NG_007496.1:g.20406C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.521C>T MANE Select	ENSP00000254958.4:p.Thr174Met
ENST00000254958.9:c.521C>T	ENSP00000254958.4:p.Thr174Met
ENST00000423891.6:n.387C>T
NM_000214.2:c.521C>T	NP_000205.1:p.Thr174Met
NM_000214.3:c.521C>T MANE Select	NP_000205.1:p.Thr174Met