Canonical Allele Identifier: CA2651914499
Gene: JAG1 HGNC NCBI

Linked Data

gnomAD v4: 20-10644747-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644747G>T , CM000682.2:g.10644747G>T GRCh38
NC_000020.10:g.10625395G>T , CM000682.1:g.10625395G>T GRCh37
NC_000020.9:g.10573395G>T NCBI36
NG_007496.1:g.34300C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.2344+116C>A MANE Select ENSP00000254958.4:n.2344+116C>A
ENST00000617965.2:n.2933+116C>A
ENST00000254958.9:c.2344+116C>A ENSP00000254958.4:n.2344+116C>A
ENST00000423891.6:n.2210+116C>A
ENST00000488480.2:n.857C>A
NM_000214.2:c.2344+116C>A NP_000205.1:n.2344+116C>A
NM_000214.3:c.2344+116C>A MANE Select NP_000205.1:n.2344+116C>A
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