Canonical Allele Identifier: CA9764966

Gene: JAG1

Linked Data

• ClinVar Variation Id: 290132
• ClinVar RCV Id: RCV000346646 ; RCV000621443 ; RCV000726436 ; RCV001087114
• dbSNP Id: rs200133928
• ExAC: 20:10630983 G / A
• gnomAD v2: 20-10630983-G-A
• gnomAD v3: 20-10650335-G-A
• gnomAD v4: 20-10650335-G-A
• MyVariant Identifiers: chr20:g.10630983G>A (hg19) ; chr20:g.10650335G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10650335G>A , CM000682.2:g.10650335G>A	GRCh38
NC_000020.10:g.10630983G>A , CM000682.1:g.10630983G>A	GRCh37
NC_000020.9:g.10578983G>A	NCBI36
NG_007496.1:g.28712C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000254958.10:c.1146C>T MANE Select	ENSP00000254958.4:p.Asn382=
ENST00000617965.2:n.1735C>T
ENST00000254958.9:c.1146C>T	ENSP00000254958.4:p.Asn382=
ENST00000423891.6:n.1012C>T
NM_000214.2:c.1146C>T	NP_000205.1:p.Asn382=
NM_000214.3:c.1146C>T MANE Select	NP_000205.1:p.Asn382=