Canonical Allele Identifier: CA509816589
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2051500
ClinVar RCV Id: RCV002927299
gnomAD v4: 20-10658640-C-G
MyVariant Identifiers: chr20:g.10639288C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658640C>G , CM000682.2:g.10658640C>G GRCh38
NC_000020.10:g.10639288C>G , CM000682.1:g.10639288C>G GRCh37
NC_000020.9:g.10587288C>G NCBI36
NG_007496.1:g.20407G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.522G>C MANE Select ENSP00000254958.4:p.Thr174=
ENST00000254958.9:c.522G>C ENSP00000254958.4:p.Thr174=
ENST00000423891.6:n.388G>C
NM_000214.2:c.522G>C NP_000205.1:p.Thr174=
NM_000214.3:c.522G>C MANE Select NP_000205.1:p.Thr174=
Search 100 bp 5'
Search 100 bp 3'