Canonical Allele Identifier: CA321376
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 213538
ClinVar RCV Id: RCV000196949 RCV001038520 RCV004553068
dbSNP Id: rs863223655
gnomAD v4: 20-10644977-G-A
COSMIC: COSM1713223 COSM1713224
MyVariant Identifiers: chr20:g.10625625G>A (hg19) chr20:g.10644977G>A (hg38)
PubMed: PMID:23891399
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644977G>A , CM000682.2:g.10644977G>A GRCh38
NC_000020.10:g.10625625G>A , CM000682.1:g.10625625G>A GRCh37
NC_000020.9:g.10573625G>A NCBI36
NG_007496.1:g.34070C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2230C>T MANE Select ENSP00000254958.4:p.Arg744Ter
ENST00000617965.2:n.2819C>T
ENST00000254958.9:c.2230C>T ENSP00000254958.4:p.Arg744Ter
ENST00000423891.6:n.2096C>T
ENST00000488480.2:n.627C>T
NM_000214.2:c.2230C>T NP_000205.1:p.Arg744Ter
NM_000214.3:c.2230C>T MANE Select NP_000205.1:p.Arg744Ter
Search 100 bp 5'
Search 100 bp 3'