Canonical Allele Identifier: CA2589843561

Gene: JAG1

Linked Data

• gnomAD v3: 20-10658141-T-C
• gnomAD v4: 20-10658141-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10658141T>C , CM000682.2:g.10658141T>C	GRCh38
NC_000020.10:g.10638789T>C , CM000682.1:g.10638789T>C	GRCh37
NC_000020.9:g.10586789T>C	NCBI36
NG_007496.1:g.20906A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.694+327A>G MANE Select	ENSP00000254958.4:n.694+327A>G
ENST00000254958.9:c.694+327A>G	ENSP00000254958.4:n.694+327A>G
ENST00000423891.6:n.560+327A>G
NM_000214.2:c.694+327A>G	NP_000205.1:n.694+327A>G
NM_000214.3:c.694+327A>G MANE Select	NP_000205.1:n.694+327A>G