Canonical Allele Identifier: CA404533447
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs2145441527

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192055T>A , CM000681.2:g.15192055T>A GRCh38
NC_000019.9:g.15302866T>A , CM000681.1:g.15302866T>A GRCh37
NC_000019.8:g.15163866T>A NCBI36
NG_009819.1:g.13927A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.584A>T MANE Select ENSP00000263388.1:p.Glu195Val
ENST00000263388.6:c.584A>T ENSP00000263388.1:p.Glu195Val
ENST00000601011.1:c.581A>T ENSP00000473138.1:p.Glu194Val
NM_000435.2:c.584A>T NP_000426.2:p.Glu195Val
XM_005259924.3:c.584A>T XP_005259981.1:p.Glu195Val
XM_005259924.4:c.584A>T XP_005259981.1:p.Glu195Val
NM_000435.3:c.584A>T MANE Select NP_000426.2:p.Glu195Val