Canonical Allele Identifier: CA408240391
Gene: JAG1 HGNC NCBI

Linked Data

gnomAD v4: 20-10658636-C-A
MyVariant Identifiers: chr20:g.10639284C>A (hg19) chr20:g.10658636C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658636C>A , CM000682.2:g.10658636C>A GRCh38
NC_000020.10:g.10639284C>A , CM000682.1:g.10639284C>A GRCh37
NC_000020.9:g.10587284C>A NCBI36
NG_007496.1:g.20411G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.526G>T MANE Select ENSP00000254958.4:p.Val176Phe
ENST00000254958.9:c.526G>T ENSP00000254958.4:p.Val176Phe
ENST00000423891.6:n.392G>T
NM_000214.2:c.526G>T NP_000205.1:p.Val176Phe
NM_000214.3:c.526G>T MANE Select NP_000205.1:p.Val176Phe
Search 100 bp 5'
Search 100 bp 3'