Canonical Allele Identifier: CA10605717
Gene: JAG1 HGNC NCBI

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
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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
Search 100 bp 5'
Search 100 bp 3'