Canonical Allele Identifier: CA404524182
Gene: NOTCH3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15186931A>G , CM000681.2:g.15186931A>G GRCh38
NC_000019.9:g.15297742A>G , CM000681.1:g.15297742A>G GRCh37
NC_000019.8:g.15158742A>G NCBI36
NG_009819.1:g.19051T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1898T>C MANE Select ENSP00000263388.1:p.Val633Ala
ENST00000263388.6:c.1898T>C ENSP00000263388.1:p.Val633Ala
ENST00000601011.1:c.1895T>C ENSP00000473138.1:p.Val632Ala
NM_000435.2:c.1898T>C NP_000426.2:p.Val633Ala
XM_005259924.3:c.1898T>C XP_005259981.1:p.Val633Ala
XM_005259924.4:c.1898T>C XP_005259981.1:p.Val633Ala
NM_000435.3:c.1898T>C MANE Select NP_000426.2:p.Val633Ala