Canonical Allele Identifier: CA2324749974
Gene: NOTCH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192049G= , CM000681.2:g.15192049G= GRCh38
NC_000019.9:g.15302860G= , CM000681.1:g.15302860G= GRCh37
NC_000019.8:g.15163860G= NCBI36
NG_009819.1:g.13933C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.590C= MANE Select ENSP00000263388.1:p.Pro197=
ENST00000263388.6:c.590C= ENSP00000263388.1:p.Pro197=
ENST00000601011.1:c.587C= ENSP00000473138.1:p.Pro196=
NM_000435.2:c.590C= NP_000426.2:p.Pro197=
XM_005259924.3:c.590C= XP_005259981.1:p.Pro197=
XM_005259924.4:c.590C= XP_005259981.1:p.Pro197=
NM_000435.3:c.590C= MANE Select NP_000426.2:p.Pro197=