Canonical Allele Identifier: CA741116581

Gene: JAG1

Linked Data

• dbSNP Id: rs1397745111
• gnomAD v3: 20-10673554-C-T
• gnomAD v4: 20-10673554-C-T
• MyVariant Identifiers: chr20:g.10654202C>T (hg19) ; chr20:g.10673554C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10673554C>T , CM000682.2:g.10673554C>T	GRCh38
NC_000020.10:g.10654202C>T , CM000682.1:g.10654202C>T	GRCh37
NC_000020.9:g.10602202C>T	NCBI36
NG_007496.1:g.5493G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.-24G>A MANE Select	ENSP00000254958.4:n.-24G>A
ENST00000254958.9:c.-24G>A	ENSP00000254958.4:n.-24G>A
NM_000214.2:c.-24G>A	NP_000205.1:n.-24G>A
NM_000214.3:c.-24G>A MANE Select	NP_000205.1:n.-24G>A