Canonical Allele Identifier: CA404534044
Gene: NOTCH3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192196G>T , CM000681.2:g.15192196G>T GRCh38
NC_000019.9:g.15303007G>T , CM000681.1:g.15303007G>T GRCh37
NC_000019.8:g.15164007G>T NCBI36
NG_009819.1:g.13786C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.443C>A MANE Select ENSP00000263388.1:p.Pro148His
ENST00000263388.6:c.443C>A ENSP00000263388.1:p.Pro148His
ENST00000601011.1:c.440C>A ENSP00000473138.1:p.Pro147His
NM_000435.2:c.443C>A NP_000426.2:p.Pro148His
XM_005259924.3:c.443C>A XP_005259981.1:p.Pro148His
XM_005259924.4:c.443C>A XP_005259981.1:p.Pro148His
NM_000435.3:c.443C>A MANE Select NP_000426.2:p.Pro148His