Canonical Allele Identifier: CA408240317
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1698157
ClinVar RCV Id: RCV002269580
dbSNP Id: rs2122623700
MyVariant Identifiers: chr20:g.10639264C>G (hg19) chr20:g.10658616C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658616C>G , CM000682.2:g.10658616C>G GRCh38
NC_000020.10:g.10639264C>G , CM000682.1:g.10639264C>G GRCh37
NC_000020.9:g.10587264C>G NCBI36
NG_007496.1:g.20431G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.546G>C MANE Select ENSP00000254958.4:p.Gln182His
ENST00000254958.9:c.546G>C ENSP00000254958.4:p.Gln182His
ENST00000423891.6:n.412G>C
NM_000214.2:c.546G>C NP_000205.1:p.Gln182His
NM_000214.3:c.546G>C MANE Select NP_000205.1:p.Gln182His
Search 100 bp 5'
Search 100 bp 3'