Canonical Allele Identifier: CA2324747687
Gene: NOTCH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187253G= , CM000681.2:g.15187253G= GRCh38
NC_000019.9:g.15298064G= , CM000681.1:g.15298064G= GRCh37
NC_000019.8:g.15159064G= NCBI36
NG_009819.1:g.18729C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1692C= MANE Select ENSP00000263388.1:p.Ala564=
ENST00000263388.6:c.1692C= ENSP00000263388.1:p.Ala564=
ENST00000601011.1:c.1689C= ENSP00000473138.1:p.Ala563=
NM_000435.2:c.1692C= NP_000426.2:p.Ala564=
XM_005259924.3:c.1692C= XP_005259981.1:p.Ala564=
XM_005259924.4:c.1692C= XP_005259981.1:p.Ala564=
NM_000435.3:c.1692C= MANE Select NP_000426.2:p.Ala564=