Canonical Allele Identifier: CA2576654648
Gene: NOTCH3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15184216G>T , CM000681.2:g.15184216G>T GRCh38
NC_000019.9:g.15295027G>T , CM000681.1:g.15295027G>T GRCh37
NC_000019.8:g.15156027G>T NCBI36
NG_009819.1:g.21766C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000263388.7:c.2566+79C>A MANE Select ENSP00000263388.1:n.2566+79C>A
ENST00000263388.6:c.2566+79C>A ENSP00000263388.1:n.2566+79C>A
ENST00000601011.1:c.2407+690C>A ENSP00000473138.1:n.2407+690C>A
NM_000435.2:c.2566+79C>A NP_000426.2:n.2566+79C>A
XM_005259924.3:c.2410+690C>A XP_005259981.1:n.2410+690C>A
XM_005259924.4:c.2410+690C>A XP_005259981.1:n.2410+690C>A
NM_000435.3:c.2566+79C>A MANE Select NP_000426.2:n.2566+79C>A