Canonical Allele Identifier: CA9764176

Gene: JAG1

Linked Data

• ClinVar Variation Id: 1123699
• ClinVar RCV Id: RCV001454840 ; RCV003365407
• dbSNP Id: rs531698711
• ExAC: 20:10620212 T / G
• gnomAD v2: 20-10620212-T-G
• gnomAD v4: 20-10639564-T-G
• MyVariant Identifiers: chr20:g.10620212T>G (hg19) ; chr20:g.10639564T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10639564T>G , CM000682.2:g.10639564T>G	GRCh38
NC_000020.10:g.10620212T>G , CM000682.1:g.10620212T>G	GRCh37
NC_000020.9:g.10568212T>G	NCBI36
NG_007496.1:g.39483A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.3591A>C MANE Select	ENSP00000254958.4:p.Thr1197=
ENST00000254958.9:c.3591A>C	ENSP00000254958.4:p.Thr1197=
ENST00000423891.6:n.3457A>C
NM_000214.2:c.3591A>C	NP_000205.1:p.Thr1197=
NM_000214.3:c.3591A>C MANE Select	NP_000205.1:p.Thr1197=