Canonical Allele Identifier: CA2324744253
Gene: NOTCH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180134A= , CM000681.2:g.15180134A= GRCh38
NC_000019.9:g.15290945A= , CM000681.1:g.15290945A= GRCh37
NC_000019.8:g.15151945A= NCBI36
NG_009819.1:g.25848T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3265T= MANE Select ENSP00000263388.1:p.Leu1089=
ENST00000263388.6:c.3265T= ENSP00000263388.1:p.Leu1089=
ENST00000601011.1:c.3106T= ENSP00000473138.1:p.Leu1036=
NM_000435.2:c.3265T= NP_000426.2:p.Leu1089=
XM_005259924.3:c.3109T= XP_005259981.1:p.Leu1037=
XM_005259924.4:c.3109T= XP_005259981.1:p.Leu1037=
NM_000435.3:c.3265T= MANE Select NP_000426.2:p.Leu1089=