Canonical Allele Identifier: CA404513045
Gene: NOTCH3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180106G>A , CM000681.2:g.15180106G>A GRCh38
NC_000019.9:g.15290917G>A , CM000681.1:g.15290917G>A GRCh37
NC_000019.8:g.15151917G>A NCBI36
NG_009819.1:g.25876C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3293C>T MANE Select ENSP00000263388.1:p.Thr1098Ile
ENST00000263388.6:c.3293C>T ENSP00000263388.1:p.Thr1098Ile
ENST00000601011.1:c.3134C>T ENSP00000473138.1:p.Thr1045Ile
NM_000435.2:c.3293C>T NP_000426.2:p.Thr1098Ile
XM_005259924.3:c.3137C>T XP_005259981.1:p.Thr1046Ile
XM_005259924.4:c.3137C>T XP_005259981.1:p.Thr1046Ile
NM_000435.3:c.3293C>T MANE Select NP_000426.2:p.Thr1098Ile