Canonical Allele Identifier: CA2583062700
Gene: NOTCH3 HGNC NCBI

Linked Data

gnomAD v4: 19-15180028-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180028G>T , CM000681.2:g.15180028G>T GRCh38
NC_000019.9:g.15290839G>T , CM000681.1:g.15290839G>T GRCh37
NC_000019.8:g.15151839G>T NCBI36
NG_009819.1:g.25954C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3327+44C>A MANE Select ENSP00000263388.1:n.3327+44C>A
ENST00000263388.6:c.3327+44C>A ENSP00000263388.1:n.3327+44C>A
ENST00000601011.1:c.3168+44C>A ENSP00000473138.1:n.3168+44C>A
NM_000435.2:c.3327+44C>A NP_000426.2:n.3327+44C>A
XM_005259924.3:c.3171+44C>A XP_005259981.1:n.3171+44C>A
XM_005259924.4:c.3171+44C>A XP_005259981.1:n.3171+44C>A
NM_000435.3:c.3327+44C>A MANE Select NP_000426.2:n.3327+44C>A
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