Canonical Allele Identifier: CA9765117
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2049576
ClinVar RCV Id: RCV002914086 RCV004066257 RCV004548405
dbSNP Id: rs745324562
ExAC: 20:10639304 G / A
gnomAD v2: 20-10639304-G-A
gnomAD v3: 20-10658656-G-A
gnomAD v4: 20-10658656-G-A
COSMIC: COSM4693727 COSM4693728
MyVariant Identifiers: chr20:g.10639304G>A (hg19) chr20:g.10658656G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658656G>A , CM000682.2:g.10658656G>A GRCh38
NC_000020.10:g.10639304G>A , CM000682.1:g.10639304G>A GRCh37
NC_000020.9:g.10587304G>A NCBI36
NG_007496.1:g.20391C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.506C>T MANE Select ENSP00000254958.4:p.Thr169Met
ENST00000254958.9:c.506C>T ENSP00000254958.4:p.Thr169Met
ENST00000423891.6:n.372C>T
NM_000214.2:c.506C>T NP_000205.1:p.Thr169Met
NM_000214.3:c.506C>T MANE Select NP_000205.1:p.Thr169Met
Search 100 bp 5'
Search 100 bp 3'