Canonical Allele Identifier: CA2651919736
Gene: JAG1 HGNC NCBI

Linked Data

gnomAD v4: 20-10673780-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10673780C>T , CM000682.2:g.10673780C>T GRCh38
NC_000020.10:g.10654428C>T , CM000682.1:g.10654428C>T GRCh37
NC_000020.9:g.10602428C>T NCBI36
NG_007496.1:g.5267G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.-250G>A MANE Select ENSP00000254958.4:n.-250G>A
ENST00000254958.9:c.-250G>A ENSP00000254958.4:n.-250G>A
NM_000214.2:c.-250G>A NP_000205.1:n.-250G>A
NM_000214.3:c.-250G>A MANE Select NP_000205.1:n.-250G>A
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