Canonical Allele Identifier: CA9764441

Gene: JAG1

Linked Data

• ClinVar Variation Id: 337749
• ClinVar RCV Id: RCV000339764 ; RCV001068124 ; RCV000408414 ; RCV004021826
• dbSNP Id: rs142742183
• ExAC: 20:10622523 T / C
• gnomAD v2: 20-10622523-T-C
• gnomAD v3: 20-10641875-T-C
• gnomAD v4: 20-10641875-T-C
• MyVariant Identifiers: chr20:g.10622523T>C (hg19) ; chr20:g.10641875T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10641875T>C , CM000682.2:g.10641875T>C	GRCh38
NC_000020.10:g.10622523T>C , CM000682.1:g.10622523T>C	GRCh37
NC_000020.9:g.10570523T>C	NCBI36
NG_007496.1:g.37172A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2590A>G MANE Select	ENSP00000254958.4:p.Ile864Val
ENST00000617965.2:n.3179A>G
ENST00000254958.9:c.2590A>G	ENSP00000254958.4:p.Ile864Val
ENST00000423891.6:n.2456A>G
NM_000214.2:c.2590A>G	NP_000205.1:p.Ile864Val
NM_000214.3:c.2590A>G MANE Select	NP_000205.1:p.Ile864Val