Canonical Allele Identifier: CA2324750022
Gene: NOTCH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192164C= , CM000681.2:g.15192164C= GRCh38
NC_000019.9:g.15302975C= , CM000681.1:g.15302975C= GRCh37
NC_000019.8:g.15163975C= NCBI36
NG_009819.1:g.13818G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.475G= MANE Select ENSP00000263388.1:p.Val159=
ENST00000263388.6:c.475G= ENSP00000263388.1:p.Val159=
ENST00000601011.1:c.472G= ENSP00000473138.1:p.Val158=
NM_000435.2:c.475G= NP_000426.2:p.Val159=
XM_005259924.3:c.475G= XP_005259981.1:p.Val159=
XM_005259924.4:c.475G= XP_005259981.1:p.Val159=
NM_000435.3:c.475G= MANE Select NP_000426.2:p.Val159=