Canonical Allele Identifier: CA404518955
Gene: NOTCH3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15184300T>G , CM000681.2:g.15184300T>G GRCh38
NC_000019.9:g.15295111T>G , CM000681.1:g.15295111T>G GRCh37
NC_000019.8:g.15156111T>G NCBI36
NG_009819.1:g.21682A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.2561A>C MANE Select ENSP00000263388.1:p.Asp854Ala
ENST00000263388.6:c.2561A>C ENSP00000263388.1:p.Asp854Ala
ENST00000601011.1:c.2407+606A>C ENSP00000473138.1:n.2407+606A>C
NM_000435.2:c.2561A>C NP_000426.2:p.Asp854Ala
XM_005259924.3:c.2410+606A>C XP_005259981.1:n.2410+606A>C
XM_005259924.4:c.2410+606A>C XP_005259981.1:n.2410+606A>C
NM_000435.3:c.2561A>C MANE Select NP_000426.2:p.Asp854Ala