Canonical Allele Identifier: CA2324750054
Gene: NOTCH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192216G= , CM000681.2:g.15192216G= GRCh38
NC_000019.9:g.15303027G= , CM000681.1:g.15303027G= GRCh37
NC_000019.8:g.15164027G= NCBI36
NG_009819.1:g.13766C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.423C= MANE Select ENSP00000263388.1:p.Arg141=
ENST00000263388.6:c.423C= ENSP00000263388.1:p.Arg141=
ENST00000601011.1:c.420C= ENSP00000473138.1:p.Arg140=
NM_000435.2:c.423C= NP_000426.2:p.Arg141=
XM_005259924.3:c.423C= XP_005259981.1:p.Arg141=
XM_005259924.4:c.423C= XP_005259981.1:p.Arg141=
NM_000435.3:c.423C= MANE Select NP_000426.2:p.Arg141=