Canonical Allele Identifier: CA2324749776
Gene: NOTCH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15191638G= , CM000681.2:g.15191638G= GRCh38
NC_000019.9:g.15302449G= , CM000681.1:g.15302449G= GRCh37
NC_000019.8:g.15163449G= NCBI36
NG_009819.1:g.14344C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.822C= MANE Select ENSP00000263388.1:p.Asp274=
ENST00000263388.6:c.822C= ENSP00000263388.1:p.Asp274=
ENST00000601011.1:c.819C= ENSP00000473138.1:p.Asp273=
NM_000435.2:c.822C= NP_000426.2:p.Asp274=
XM_005259924.3:c.822C= XP_005259981.1:p.Asp274=
XM_005259924.4:c.822C= XP_005259981.1:p.Asp274=
NM_000435.3:c.822C= MANE Select NP_000426.2:p.Asp274=