Canonical Allele Identifier: CA408239793
Gene: JAG1 HGNC NCBI

Linked Data

gnomAD v4: 20-10656425-C-A
MyVariant Identifiers: chr20:g.10637073C>A (hg19) chr20:g.10656425C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10656425C>A , CM000682.2:g.10656425C>A GRCh38
NC_000020.10:g.10637073C>A , CM000682.1:g.10637073C>A GRCh37
NC_000020.9:g.10585073C>A NCBI36
NG_007496.1:g.22622G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.728G>T MANE Select ENSP00000254958.4:p.Gly243Val
ENST00000254958.9:c.728G>T ENSP00000254958.4:p.Gly243Val
ENST00000423891.6:n.594G>T
NM_000214.2:c.728G>T NP_000205.1:p.Gly243Val
NM_000214.3:c.728G>T MANE Select NP_000205.1:p.Gly243Val
Search 100 bp 5'
Search 100 bp 3'