Canonical Allele Identifier: CA741116629

Gene: JAG1

Linked Data

• ClinVar Variation Id: 896225
• ClinVar RCV Id: RCV001138745 ; RCV002482265
• dbSNP Id: rs1208905634
• gnomAD v4: 20-10673605-T-C
• MyVariant Identifiers: chr20:g.10654253T>C (hg19) ; chr20:g.10673605T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10673605T>C , CM000682.2:g.10673605T>C	GRCh38
NC_000020.10:g.10654253T>C , CM000682.1:g.10654253T>C	GRCh37
NC_000020.9:g.10602253T>C	NCBI36
NG_007496.1:g.5442A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.-75A>G MANE Select	ENSP00000254958.4:n.-75A>G
ENST00000254958.9:c.-75A>G	ENSP00000254958.4:n.-75A>G
NM_000214.2:c.-75A>G	NP_000205.1:n.-75A>G
NM_000214.3:c.-75A>G MANE Select	NP_000205.1:n.-75A>G