Canonical Allele Identifier: CA311357576

Gene: JAG1

Linked Data

• ClinVar Variation Id: 498358
• ClinVar RCV Id: RCV000592427 ; RCV001039478 ; RCV002476291 ; RCV003160015
• dbSNP Id: rs563232654
• gnomAD v2: 20-10654160-G-A
• gnomAD v3: 20-10673512-G-A
• gnomAD v4: 20-10673512-G-A
• MyVariant Identifiers: chr20:g.10654160G>A (hg19) ; chr20:g.10673512G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10673512G>A , CM000682.2:g.10673512G>A	GRCh38
NC_000020.10:g.10654160G>A , CM000682.1:g.10654160G>A	GRCh37
NC_000020.9:g.10602160G>A	NCBI36
NG_007496.1:g.5535C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.19C>T MANE Select	ENSP00000254958.4:p.Arg7Cys
ENST00000254958.9:c.19C>T	ENSP00000254958.4:p.Arg7Cys
NM_000214.2:c.19C>T	NP_000205.1:p.Arg7Cys
NM_000214.3:c.19C>T MANE Select	NP_000205.1:p.Arg7Cys