Canonical Allele Identifier: CA9764224

Gene: JAG1

Linked Data

• ClinVar Variation Id: 287496
• ClinVar RCV Id: RCV000726021 ; RCV001052188 ; RCV002321960 ; RCV000276199
• dbSNP Id: rs150811951
• ExAC: 20:10620474 T / G
• gnomAD v2: 20-10620474-T-G
• gnomAD v3: 20-10639826-T-G
• gnomAD v4: 20-10639826-T-G
• MyVariant Identifiers: chr20:g.10620474T>G (hg19) ; chr20:g.10639826T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10639826T>G , CM000682.2:g.10639826T>G	GRCh38
NC_000020.10:g.10620474T>G , CM000682.1:g.10620474T>G	GRCh37
NC_000020.9:g.10568474T>G	NCBI36
NG_007496.1:g.39221A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.3329A>C MANE Select	ENSP00000254958.4:p.Asn1110Thr
ENST00000254958.9:c.3329A>C	ENSP00000254958.4:p.Asn1110Thr
ENST00000423891.6:n.3195A>C
NM_000214.2:c.3329A>C	NP_000205.1:p.Asn1110Thr
NM_000214.3:c.3329A>C MANE Select	NP_000205.1:p.Asn1110Thr