Canonical Allele Identifier: CA408239911
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1074995
ClinVar RCV Id: RCV001388474
dbSNP Id: rs1286744339
MyVariant Identifiers: chr20:g.10639128C>A (hg19) chr20:g.10658480C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658480C>A , CM000682.2:g.10658480C>A GRCh38
NC_000020.10:g.10639128C>A , CM000682.1:g.10639128C>A GRCh37
NC_000020.9:g.10587128C>A NCBI36
NG_007496.1:g.20567G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.682G>T MANE Select ENSP00000254958.4:p.Glu228Ter
ENST00000254958.9:c.682G>T ENSP00000254958.4:p.Glu228Ter
ENST00000423891.6:n.548G>T
NM_000214.2:c.682G>T NP_000205.1:p.Glu228Ter
NM_000214.3:c.682G>T MANE Select NP_000205.1:p.Glu228Ter
Search 100 bp 5'
Search 100 bp 3'