Canonical Allele Identifier: CA2651913748
Gene: JAG1 HGNC NCBI

Linked Data

gnomAD v4: 20-10644003-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644003G>A , CM000682.2:g.10644003G>A GRCh38
NC_000020.10:g.10624651G>A , CM000682.1:g.10624651G>A GRCh37
NC_000020.9:g.10572651G>A NCBI36
NG_007496.1:g.35044C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2373-140C>T MANE Select ENSP00000254958.4:n.2373-140C>T
ENST00000617965.2:n.2962-140C>T
ENST00000254958.9:c.2373-140C>T ENSP00000254958.4:n.2373-140C>T
ENST00000423891.6:n.2239-140C>T
NM_000214.2:c.2373-140C>T NP_000205.1:n.2373-140C>T
NM_000214.3:c.2373-140C>T MANE Select NP_000205.1:n.2373-140C>T
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