Canonical Allele Identifier: CA9764188

Gene: JAG1

Linked Data

• ClinVar Variation Id: 499247
• ClinVar RCV Id: RCV000595898 ; RCV001860182
• dbSNP Id: rs755420729
• ExAC: 20:10620243 T / C
• gnomAD v2: 20-10620243-T-C
• gnomAD v3: 20-10639595-T-C
• gnomAD v4: 20-10639595-T-C
• MyVariant Identifiers: chr20:g.10620243T>C (hg19) ; chr20:g.10639595T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10639595T>C , CM000682.2:g.10639595T>C	GRCh38
NC_000020.10:g.10620243T>C , CM000682.1:g.10620243T>C	GRCh37
NC_000020.9:g.10568243T>C	NCBI36
NG_007496.1:g.39452A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.3560A>G MANE Select	ENSP00000254958.4:p.Asn1187Ser
ENST00000254958.9:c.3560A>G	ENSP00000254958.4:p.Asn1187Ser
ENST00000423891.6:n.3426A>G
NM_000214.2:c.3560A>G	NP_000205.1:p.Asn1187Ser
NM_000214.3:c.3560A>G MANE Select	NP_000205.1:p.Asn1187Ser