Canonical Allele Identifier: CA404513849
Gene: NOTCH3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180220T>C , CM000681.2:g.15180220T>C GRCh38
NC_000019.9:g.15291031T>C , CM000681.1:g.15291031T>C GRCh37
NC_000019.8:g.15152031T>C NCBI36
NG_009819.1:g.25762A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3179A>G MANE Select ENSP00000263388.1:p.Gln1060Arg
ENST00000263388.6:c.3179A>G ENSP00000263388.1:p.Gln1060Arg
ENST00000601011.1:c.3020A>G ENSP00000473138.1:p.Gln1007Arg
NM_000435.2:c.3179A>G NP_000426.2:p.Gln1060Arg
XM_005259924.3:c.3023A>G XP_005259981.1:p.Gln1008Arg
XM_005259924.4:c.3023A>G XP_005259981.1:p.Gln1008Arg
NM_000435.3:c.3179A>G MANE Select NP_000426.2:p.Gln1060Arg