Canonical Allele Identifier: CA2324749929
Gene: NOTCH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15191970G= , CM000681.2:g.15191970G= GRCh38
NC_000019.9:g.15302781G= , CM000681.1:g.15302781G= GRCh37
NC_000019.8:g.15163781G= NCBI36
NG_009819.1:g.14012C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.669C= MANE Select ENSP00000263388.1:p.Ala223=
ENST00000263388.6:c.669C= ENSP00000263388.1:p.Ala223=
ENST00000601011.1:c.666C= ENSP00000473138.1:p.Ala222=
NM_000435.2:c.669C= NP_000426.2:p.Ala223=
XM_005259924.3:c.669C= XP_005259981.1:p.Ala223=
XM_005259924.4:c.669C= XP_005259981.1:p.Ala223=
NM_000435.3:c.669C= MANE Select NP_000426.2:p.Ala223=