Canonical Allele Identifier: CA9764914

Gene: JAG1

Linked Data

• ClinVar Variation Id: 337756
• ClinVar RCV Id: RCV000321807 ; RCV001441629 ; RCV003430856 ; RCV002379231 ; RCV002504138
• dbSNP Id: rs754081766
• ExAC: 20:10630174 G / A
• gnomAD v2: 20-10630174-G-A
• gnomAD v3: 20-10649526-G-A
• gnomAD v4: 20-10649526-G-A
• MyVariant Identifiers: chr20:g.10630174G>A (hg19) ; chr20:g.10649526G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10649526G>A , CM000682.2:g.10649526G>A	GRCh38
NC_000020.10:g.10630174G>A , CM000682.1:g.10630174G>A	GRCh37
NC_000020.9:g.10578174G>A	NCBI36
NG_007496.1:g.29521C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.1344C>T MANE Select	ENSP00000254958.4:p.Asp448=
ENST00000617965.2:n.1933C>T
ENST00000254958.9:c.1344C>T	ENSP00000254958.4:p.Asp448=
ENST00000423891.6:n.1210C>T
ENST00000620743.1:n.63C>T
ENST00000622545.1:c.121C>T
NM_000214.2:c.1344C>T	NP_000205.1:p.Asp448=
NM_000214.3:c.1344C>T MANE Select	NP_000205.1:p.Asp448=