Canonical Allele Identifier: CA2324746269
Gene: NOTCH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15184311G= , CM000681.2:g.15184311G= GRCh38
NC_000019.9:g.15295122G= , CM000681.1:g.15295122G= GRCh37
NC_000019.8:g.15156122G= NCBI36
NG_009819.1:g.21671C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.2550C= MANE Select ENSP00000263388.1:p.Ile850=
ENST00000263388.6:c.2550C= ENSP00000263388.1:p.Ile850=
ENST00000601011.1:c.2407+595C= ENSP00000473138.1:n.2407+595C=
NM_000435.2:c.2550C= NP_000426.2:p.Ile850=
XM_005259924.3:c.2410+595C= XP_005259981.1:n.2410+595C=
XM_005259924.4:c.2410+595C= XP_005259981.1:n.2410+595C=
NM_000435.3:c.2550C= MANE Select NP_000426.2:p.Ile850=