Canonical Allele Identifier: CA9765099

Gene: JAG1

Linked Data

• dbSNP Id: rs756810477
• ExAC: 20:10639100 A / G
• gnomAD v2: 20-10639100-A-G
• gnomAD v4: 20-10658452-A-G
• MyVariant Identifiers: chr20:g.10639100A>G (hg19) ; chr20:g.10658452A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10658452A>G , CM000682.2:g.10658452A>G	GRCh38
NC_000020.10:g.10639100A>G , CM000682.1:g.10639100A>G	GRCh37
NC_000020.9:g.10587100A>G	NCBI36
NG_007496.1:g.20595T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.694+16T>C MANE Select	ENSP00000254958.4:n.694+16T>C
ENST00000254958.9:c.694+16T>C	ENSP00000254958.4:n.694+16T>C
ENST00000423891.6:n.560+16T>C
NM_000214.2:c.694+16T>C	NP_000205.1:n.694+16T>C
NM_000214.3:c.694+16T>C MANE Select	NP_000205.1:n.694+16T>C