Canonical Allele Identifier: CA2349888503

Gene: JAG1

Linked Data

• dbSNP Id: rs1600189119
• gnomAD v4: 20-10658810-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10658810A>C , CM000682.2:g.10658810A>C	GRCh38
NC_000020.10:g.10639458A>C , CM000682.1:g.10639458A>C	GRCh37
NC_000020.9:g.10587458A>C	NCBI36
NG_007496.1:g.20237T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.440-88T>G MANE Select	ENSP00000254958.4:n.440-88T>G
ENST00000254958.9:c.440-88T>G	ENSP00000254958.4:n.440-88T>G
ENST00000423891.6:n.306-88T>G
NM_000214.2:c.440-88T>G	NP_000205.1:n.440-88T>G
NM_000214.3:c.440-88T>G MANE Select	NP_000205.1:n.440-88T>G