Canonical Allele Identifier: CA9764843

Gene: JAG1

Linked Data

• ClinVar Variation Id: 337755
• ClinVar RCV Id: RCV000260977 ; RCV000626304 ; RCV001795956 ; RCV001795955 ; RCV002392902
• dbSNP Id: rs149366993
• ExAC: 20:10629327 G / A
• gnomAD v2: 20-10629327-G-A
• gnomAD v3: 20-10648679-G-A
• gnomAD v4: 20-10648679-G-A
• MyVariant Identifiers: chr20:g.10629327G>A (hg19) ; chr20:g.10648679G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10648679G>A , CM000682.2:g.10648679G>A	GRCh38
NC_000020.10:g.10629327G>A , CM000682.1:g.10629327G>A	GRCh37
NC_000020.9:g.10577327G>A	NCBI36
NG_007496.1:g.30368C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.1439C>T MANE Select	ENSP00000254958.4:p.Ala480Val
ENST00000617965.2:n.2028C>T
ENST00000254958.9:c.1439C>T	ENSP00000254958.4:p.Ala480Val
ENST00000423891.6:n.1305C>T
ENST00000620743.1:n.496C>T
ENST00000622545.1:c.173-3C>T
NM_000214.2:c.1439C>T	NP_000205.1:p.Ala480Val
NM_000214.3:c.1439C>T MANE Select	NP_000205.1:p.Ala480Val