Canonical Allele Identifier: CA404519098
Gene: NOTCH3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15184315T>A , CM000681.2:g.15184315T>A GRCh38
NC_000019.9:g.15295126T>A , CM000681.1:g.15295126T>A GRCh37
NC_000019.8:g.15156126T>A NCBI36
NG_009819.1:g.21667A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.2546A>T MANE Select ENSP00000263388.1:p.Asp849Val
ENST00000263388.6:c.2546A>T ENSP00000263388.1:p.Asp849Val
ENST00000601011.1:c.2407+591A>T ENSP00000473138.1:n.2407+591A>T
NM_000435.2:c.2546A>T NP_000426.2:p.Asp849Val
XM_005259924.3:c.2410+591A>T XP_005259981.1:n.2410+591A>T
XM_005259924.4:c.2410+591A>T XP_005259981.1:n.2410+591A>T
NM_000435.3:c.2546A>T MANE Select NP_000426.2:p.Asp849Val