Canonical Allele Identifier: CA9765094

Gene: JAG1

Linked Data

• dbSNP Id: rs758847237
• ExAC: 20:10639093 C / T
• gnomAD v2: 20-10639093-C-T
• gnomAD v3: 20-10658445-C-T
• gnomAD v4: 20-10658445-C-T
• MyVariant Identifiers: chr20:g.10639093C>T (hg19) ; chr20:g.10658445C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10658445C>T , CM000682.2:g.10658445C>T	GRCh38
NC_000020.10:g.10639093C>T , CM000682.1:g.10639093C>T	GRCh37
NC_000020.9:g.10587093C>T	NCBI36
NG_007496.1:g.20602G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.694+23G>A MANE Select	ENSP00000254958.4:n.694+23G>A
ENST00000254958.9:c.694+23G>A	ENSP00000254958.4:n.694+23G>A
ENST00000423891.6:n.560+23G>A
NM_000214.2:c.694+23G>A	NP_000205.1:n.694+23G>A
NM_000214.3:c.694+23G>A MANE Select	NP_000205.1:n.694+23G>A