Canonical Allele Identifier: CA131303

Gene: JAG1

Linked Data

• ClinVar Variation Id: 42479
• ClinVar RCV Id: RCV000035334 ; RCV001056389 ; RCV004018738
• dbSNP Id: rs397515876
• gnomAD v2: 20-10620220-T-C
• gnomAD v3: 20-10639572-T-C
• gnomAD v4: 20-10639572-T-C
• MyVariant Identifiers: chr20:g.10620220T>C (hg19) ; chr20:g.10639572T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10639572T>C , CM000682.2:g.10639572T>C	GRCh38
NC_000020.10:g.10620220T>C , CM000682.1:g.10620220T>C	GRCh37
NC_000020.9:g.10568220T>C	NCBI36
NG_007496.1:g.39475A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.3583A>G MANE Select	ENSP00000254958.4:p.Asn1195Asp
ENST00000254958.9:c.3583A>G	ENSP00000254958.4:p.Asn1195Asp
ENST00000423891.6:n.3449A>G
NM_000214.2:c.3583A>G	NP_000205.1:p.Asn1195Asp
NM_000214.3:c.3583A>G MANE Select	NP_000205.1:p.Asn1195Asp