Canonical Allele Identifier: CA9263836
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs746280914

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15191980dup , CM000681.2:g.15191980dup GRCh38
NC_000019.9:g.15302791dup , CM000681.1:g.15302791dup GRCh37
NC_000019.8:g.15163791dup NCBI36
NG_009819.1:g.14002dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.659dup MANE Select ENSP00000263388.1:p.Tyr220Ter
ENST00000263388.6:c.659dup ENSP00000263388.1:p.Tyr220Ter
ENST00000601011.1:c.656dup ENSP00000473138.1:p.Tyr219Ter
NM_000435.2:c.659dup NP_000426.2:p.Tyr220Ter
XM_005259924.3:c.659dup XP_005259981.1:p.Tyr220Ter
XM_005259924.4:c.659dup XP_005259981.1:p.Tyr220Ter
NM_000435.3:c.659dup MANE Select NP_000426.2:p.Tyr220Ter