Canonical Allele Identifier: CA404524857
Gene: NOTCH3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187174A>C , CM000681.2:g.15187174A>C GRCh38
NC_000019.9:g.15297985A>C , CM000681.1:g.15297985A>C GRCh37
NC_000019.8:g.15158985A>C NCBI36
NG_009819.1:g.18808T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1771T>G MANE Select ENSP00000263388.1:p.Cys591Gly
ENST00000263388.6:c.1771T>G ENSP00000263388.1:p.Cys591Gly
ENST00000601011.1:c.1768T>G ENSP00000473138.1:p.Cys590Gly
NM_000435.2:c.1771T>G NP_000426.2:p.Cys591Gly
XM_005259924.3:c.1771T>G XP_005259981.1:p.Cys591Gly
XM_005259924.4:c.1771T>G XP_005259981.1:p.Cys591Gly
NM_000435.3:c.1771T>G MANE Select NP_000426.2:p.Cys591Gly