Canonical Allele Identifier: CA2324750056
Gene: NOTCH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192218G= , CM000681.2:g.15192218G= GRCh38
NC_000019.9:g.15303029G= , CM000681.1:g.15303029G= GRCh37
NC_000019.8:g.15164029G= NCBI36
NG_009819.1:g.13764C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.421C= MANE Select ENSP00000263388.1:p.Arg141=
ENST00000263388.6:c.421C= ENSP00000263388.1:p.Arg141=
ENST00000601011.1:c.418C= ENSP00000473138.1:p.Arg140=
NM_000435.2:c.421C= NP_000426.2:p.Arg141=
XM_005259924.3:c.421C= XP_005259981.1:p.Arg141=
XM_005259924.4:c.421C= XP_005259981.1:p.Arg141=
NM_000435.3:c.421C= MANE Select NP_000426.2:p.Arg141=