Canonical Allele Identifier: CA9764423

Gene: JAG1

Linked Data

• ClinVar Variation Id: 234323
• ClinVar RCV Id: RCV000220286 ; RCV000476409 ; RCV000765486 ; RCV002429080
• dbSNP Id: rs149419694
• ExAC: 20:10622447 C / T
• gnomAD v2: 20-10622447-C-T
• gnomAD v3: 20-10641799-C-T
• gnomAD v4: 20-10641799-C-T
• MyVariant Identifiers: chr20:g.10622447C>T (hg19) ; chr20:g.10641799C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10641799C>T , CM000682.2:g.10641799C>T	GRCh38
NC_000020.10:g.10622447C>T , CM000682.1:g.10622447C>T	GRCh37
NC_000020.9:g.10570447C>T	NCBI36
NG_007496.1:g.37248G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2666G>A MANE Select	ENSP00000254958.4:p.Arg889Gln
ENST00000617965.2:n.3255G>A
ENST00000254958.9:c.2666G>A	ENSP00000254958.4:p.Arg889Gln
ENST00000423891.6:n.2532G>A
NM_000214.2:c.2666G>A	NP_000205.1:p.Arg889Gln
NM_000214.3:c.2666G>A MANE Select	NP_000205.1:p.Arg889Gln