Canonical Allele Identifier: CA2583062617
Gene: NOTCH3 HGNC NCBI

Linked Data

gnomAD v4: 19-15179969-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15179969C>A , CM000681.2:g.15179969C>A GRCh38
NC_000019.9:g.15290780C>A , CM000681.1:g.15290780C>A GRCh37
NC_000019.8:g.15151780C>A NCBI36
NG_009819.1:g.26013G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3327+103G>T MANE Select ENSP00000263388.1:n.3327+103G>T
ENST00000263388.6:c.3327+103G>T ENSP00000263388.1:n.3327+103G>T
ENST00000601011.1:c.3168+103G>T ENSP00000473138.1:n.3168+103G>T
NM_000435.2:c.3327+103G>T NP_000426.2:n.3327+103G>T
XM_005259924.3:c.3171+103G>T XP_005259981.1:n.3171+103G>T
XM_005259924.4:c.3171+103G>T XP_005259981.1:n.3171+103G>T
NM_000435.3:c.3327+103G>T MANE Select NP_000426.2:n.3327+103G>T
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