Canonical Allele Identifier: CA2583063800
Gene: NOTCH3 HGNC NCBI

Linked Data

gnomAD v4: 19-15184201-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15184201G>A , CM000681.2:g.15184201G>A GRCh38
NC_000019.9:g.15295012G>A , CM000681.1:g.15295012G>A GRCh37
NC_000019.8:g.15156012G>A NCBI36
NG_009819.1:g.21781C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.2566+94C>T MANE Select ENSP00000263388.1:n.2566+94C>T
ENST00000263388.6:c.2566+94C>T ENSP00000263388.1:n.2566+94C>T
ENST00000601011.1:c.2407+705C>T ENSP00000473138.1:n.2407+705C>T
NM_000435.2:c.2566+94C>T NP_000426.2:n.2566+94C>T
XM_005259924.3:c.2410+705C>T XP_005259981.1:n.2410+705C>T
XM_005259924.4:c.2410+705C>T XP_005259981.1:n.2410+705C>T
NM_000435.3:c.2566+94C>T MANE Select NP_000426.2:n.2566+94C>T
Search 100 bp 5'
Search 100 bp 3'