Canonical Allele Identifier: CA2324749793
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs2046927806
gnomAD v4: 19-15191677-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15191677C>T , CM000681.2:g.15191677C>T GRCh38
NC_000019.9:g.15302488C>T , CM000681.1:g.15302488C>T GRCh37
NC_000019.8:g.15163488C>T NCBI36
NG_009819.1:g.14305G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.803-20G>A MANE Select ENSP00000263388.1:n.803-20G>A
ENST00000263388.6:c.803-20G>A ENSP00000263388.1:n.803-20G>A
ENST00000601011.1:c.800-20G>A ENSP00000473138.1:n.800-20G>A
NM_000435.2:c.803-20G>A NP_000426.2:n.803-20G>A
XM_005259924.3:c.803-20G>A XP_005259981.1:n.803-20G>A
XM_005259924.4:c.803-20G>A XP_005259981.1:n.803-20G>A
NM_000435.3:c.803-20G>A MANE Select NP_000426.2:n.803-20G>A
Search 100 bp 5'
Search 100 bp 3'