Canonical Allele Identifier: CA2324749970
Gene: NOTCH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192045C= , CM000681.2:g.15192045C= GRCh38
NC_000019.9:g.15302856C= , CM000681.1:g.15302856C= GRCh37
NC_000019.8:g.15163856C= NCBI36
NG_009819.1:g.13937G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.594G= MANE Select ENSP00000263388.1:p.Ala198=
ENST00000263388.6:c.594G= ENSP00000263388.1:p.Ala198=
ENST00000601011.1:c.591G= ENSP00000473138.1:p.Ala197=
NM_000435.2:c.594G= NP_000426.2:p.Ala198=
XM_005259924.3:c.594G= XP_005259981.1:p.Ala198=
XM_005259924.4:c.594G= XP_005259981.1:p.Ala198=
NM_000435.3:c.594G= MANE Select NP_000426.2:p.Ala198=