Canonical Allele Identifier: CA2813728453
Gene: NOTCH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15191717C>A , CM000681.2:g.15191717C>A GRCh38
NC_000019.9:g.15302528C>A , CM000681.1:g.15302528C>A GRCh37
NC_000019.8:g.15163528C>A NCBI36
NG_009819.1:g.14265G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.802+28G>T MANE Select ENSP00000263388.1:n.802+28G>T
ENST00000263388.6:c.802+28G>T ENSP00000263388.1:n.802+28G>T
ENST00000601011.1:c.799+28G>T ENSP00000473138.1:n.799+28G>T
NM_000435.2:c.802+28G>T NP_000426.2:n.802+28G>T
XM_005259924.3:c.802+28G>T XP_005259981.1:n.802+28G>T
XM_005259924.4:c.802+28G>T XP_005259981.1:n.802+28G>T
NM_000435.3:c.802+28G>T MANE Select NP_000426.2:n.802+28G>T