Canonical Allele Identifier: CA10605717

Gene: JAG1

Linked Data

• ClinVar Variation Id: 287254
• ClinVar RCV Id: RCV000370816 ; RCV000725978
• dbSNP Id: rs886043606
• MyVariant Identifiers: chr20:g.10644611G>A (hg19) ; chr20:g.10663963G>A (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10663963G>A , CM000682.2:g.10663963G>A	GRCh38
NC_000020.10:g.10644611G>A , CM000682.1:g.10644611G>A	GRCh37
NC_000020.9:g.10592611G>A	NCBI36
NG_007496.1:g.15084C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.439C>T MANE Select	ENSP00000254958.4:p.Gln147Ter
ENST00000254958.9:c.439C>T	ENSP00000254958.4:p.Gln147Ter
NM_000214.2:c.439C>T	NP_000205.1:p.Gln147Ter
NM_000214.3:c.439C>T MANE Select	NP_000205.1:p.Gln147Ter