Canonical Allele Identifier: CA2324749998
Gene: NOTCH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192118C= , CM000681.2:g.15192118C= GRCh38
NC_000019.9:g.15302929C= , CM000681.1:g.15302929C= GRCh37
NC_000019.8:g.15163929C= NCBI36
NG_009819.1:g.13864G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.521G= MANE Select ENSP00000263388.1:p.Cys174=
ENST00000263388.6:c.521G= ENSP00000263388.1:p.Cys174=
ENST00000601011.1:c.518G= ENSP00000473138.1:p.Cys173=
NM_000435.2:c.521G= NP_000426.2:p.Cys174=
XM_005259924.3:c.521G= XP_005259981.1:p.Cys174=
XM_005259924.4:c.521G= XP_005259981.1:p.Cys174=
NM_000435.3:c.521G= MANE Select NP_000426.2:p.Cys174=