Canonical Allele Identifier: CA9764573
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1137711
ClinVar RCV Id: RCV001473829 RCV002506548 RCV003965952
dbSNP Id: rs368675736
ExAC: 20:10625605 G / A
gnomAD v2: 20-10625605-G-A
gnomAD v3: 20-10644957-G-A
gnomAD v4: 20-10644957-G-A
MyVariant Identifiers: chr20:g.10625605G>A (hg19) chr20:g.10644957G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644957G>A , CM000682.2:g.10644957G>A GRCh38
NC_000020.10:g.10625605G>A , CM000682.1:g.10625605G>A GRCh37
NC_000020.9:g.10573605G>A NCBI36
NG_007496.1:g.34090C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.2250C>T MANE Select ENSP00000254958.4:p.Pro750=
ENST00000617965.2:n.2839C>T
ENST00000254958.9:c.2250C>T ENSP00000254958.4:p.Pro750=
ENST00000423891.6:n.2116C>T
ENST00000488480.2:n.647C>T
NM_000214.2:c.2250C>T NP_000205.1:p.Pro750=
NM_000214.3:c.2250C>T MANE Select NP_000205.1:p.Pro750=
Search 100 bp 5'
Search 100 bp 3'