Canonical Allele Identifier: CA2651914628
Gene: JAG1 HGNC NCBI

Linked Data

gnomAD v4: 20-10645277-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10645277G>T , CM000682.2:g.10645277G>T GRCh38
NC_000020.10:g.10625925G>T , CM000682.1:g.10625925G>T GRCh37
NC_000020.9:g.10573925G>T NCBI36
NG_007496.1:g.33770C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2114-21C>A MANE Select ENSP00000254958.4:n.2114-21C>A
ENST00000617965.2:n.2703-21C>A
ENST00000254958.9:c.2114-21C>A ENSP00000254958.4:n.2114-21C>A
ENST00000423891.6:n.1980-21C>A
ENST00000488480.2:n.511-21C>A
NM_000214.2:c.2114-21C>A NP_000205.1:n.2114-21C>A
NM_000214.3:c.2114-21C>A MANE Select NP_000205.1:n.2114-21C>A
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