Canonical Allele Identifier: CA9765092

Gene: JAG1

Linked Data

• dbSNP Id: rs765803559
• ExAC: 20:10639087 C / A
• gnomAD v2: 20-10639087-C-A
• gnomAD v3: 20-10658439-C-A
• gnomAD v4: 20-10658439-C-A
• MyVariant Identifiers: chr20:g.10639087C>A (hg19) ; chr20:g.10658439C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10658439C>A , CM000682.2:g.10658439C>A	GRCh38
NC_000020.10:g.10639087C>A , CM000682.1:g.10639087C>A	GRCh37
NC_000020.9:g.10587087C>A	NCBI36
NG_007496.1:g.20608G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.694+29G>T MANE Select	ENSP00000254958.4:n.694+29G>T
ENST00000254958.9:c.694+29G>T	ENSP00000254958.4:n.694+29G>T
ENST00000423891.6:n.560+29G>T
NM_000214.2:c.694+29G>T	NP_000205.1:n.694+29G>T
NM_000214.3:c.694+29G>T MANE Select	NP_000205.1:n.694+29G>T