Canonical Allele Identifier: CA2324747531
Gene: NOTCH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15186930G= , CM000681.2:g.15186930G= GRCh38
NC_000019.9:g.15297741G= , CM000681.1:g.15297741G= GRCh37
NC_000019.8:g.15158741G= NCBI36
NG_009819.1:g.19052C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1899C= MANE Select ENSP00000263388.1:p.Val633=
ENST00000263388.6:c.1899C= ENSP00000263388.1:p.Val633=
ENST00000601011.1:c.1896C= ENSP00000473138.1:p.Val632=
NM_000435.2:c.1899C= NP_000426.2:p.Val633=
XM_005259924.3:c.1899C= XP_005259981.1:p.Val633=
XM_005259924.4:c.1899C= XP_005259981.1:p.Val633=
NM_000435.3:c.1899C= MANE Select NP_000426.2:p.Val633=