Canonical Allele Identifier: CA404513937
Gene: NOTCH3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180241T>C , CM000681.2:g.15180241T>C GRCh38
NC_000019.9:g.15291052T>C , CM000681.1:g.15291052T>C GRCh37
NC_000019.8:g.15152052T>C NCBI36
NG_009819.1:g.25741A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3158A>G MANE Select ENSP00000263388.1:p.Gln1053Arg
ENST00000263388.6:c.3158A>G ENSP00000263388.1:p.Gln1053Arg
ENST00000601011.1:c.2999A>G ENSP00000473138.1:p.Gln1000Arg
NM_000435.2:c.3158A>G NP_000426.2:p.Gln1053Arg
XM_005259924.3:c.3002A>G XP_005259981.1:p.Gln1001Arg
XM_005259924.4:c.3002A>G XP_005259981.1:p.Gln1001Arg
NM_000435.3:c.3158A>G MANE Select NP_000426.2:p.Gln1053Arg