Canonical Allele Identifier: CA408239274
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2045666
ClinVar RCV Id: RCV002900578
MyVariant Identifiers: chr20:g.10633152A>G (hg19) chr20:g.10652504A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10652504A>G , CM000682.2:g.10652504A>G GRCh38
NC_000020.10:g.10633152A>G , CM000682.1:g.10633152A>G GRCh37
NC_000020.9:g.10581152A>G NCBI36
NG_007496.1:g.26543T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.850T>C MANE Select ENSP00000254958.4:p.Cys284Arg
ENST00000617965.2:n.219T>C
ENST00000254958.9:c.850T>C ENSP00000254958.4:p.Cys284Arg
ENST00000423891.6:n.716T>C
ENST00000617965.1:n.219T>C
NM_000214.2:c.850T>C NP_000205.1:p.Cys284Arg
NM_000214.3:c.850T>C MANE Select NP_000205.1:p.Cys284Arg
Search 100 bp 5'
Search 100 bp 3'