Canonical Allele Identifier: CA2651917339

Gene: JAG1

Linked Data

• gnomAD v4: 20-10656382-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10656382A>C , CM000682.2:g.10656382A>C	GRCh38
NC_000020.10:g.10637030A>C , CM000682.1:g.10637030A>C	GRCh37
NC_000020.9:g.10585030A>C	NCBI36
NG_007496.1:g.22665T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000254958.10:c.755+16T>G MANE Select	ENSP00000254958.4:n.755+16T>G
ENST00000254958.9:c.755+16T>G	ENSP00000254958.4:n.755+16T>G
ENST00000423891.6:n.621+16T>G
NM_000214.2:c.755+16T>G	NP_000205.1:n.755+16T>G
NM_000214.3:c.755+16T>G MANE Select	NP_000205.1:n.755+16T>G