Canonical Allele Identifier: CA657222817
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs1273089612
gnomAD v3: 20-10673817-C-T
gnomAD v4: 20-10673817-C-T
COSMIC: COSN14603298
MyVariant Identifiers: chr20:g.10654465C>T (hg19) chr20:g.10673817C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10673817C>T , CM000682.2:g.10673817C>T GRCh38
NC_000020.10:g.10654465C>T , CM000682.1:g.10654465C>T GRCh37
NC_000020.9:g.10602465C>T NCBI36
NG_007496.1:g.5230G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.-287G>A MANE Select ENSP00000254958.4:n.-287G>A
ENST00000254958.9:c.-287G>A ENSP00000254958.4:n.-287G>A
NM_000214.2:c.-287G>A NP_000205.1:n.-287G>A
NM_000214.3:c.-287G>A MANE Select NP_000205.1:n.-287G>A
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