Canonical Allele Identifier: CA404513932
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs1338220401

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180240C>A , CM000681.2:g.15180240C>A GRCh38
NC_000019.9:g.15291051C>A , CM000681.1:g.15291051C>A GRCh37
NC_000019.8:g.15152051C>A NCBI36
NG_009819.1:g.25742G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3159G>T MANE Select ENSP00000263388.1:p.Gln1053His
ENST00000263388.6:c.3159G>T ENSP00000263388.1:p.Gln1053His
ENST00000601011.1:c.3000G>T ENSP00000473138.1:p.Gln1000His
NM_000435.2:c.3159G>T NP_000426.2:p.Gln1053His
XM_005259924.3:c.3003G>T XP_005259981.1:p.Gln1001His
XM_005259924.4:c.3003G>T XP_005259981.1:p.Gln1001His
NM_000435.3:c.3159G>T MANE Select NP_000426.2:p.Gln1053His