Canonical Allele Identifier: CA404534115
Gene: NOTCH3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192213G>C , CM000681.2:g.15192213G>C GRCh38
NC_000019.9:g.15303024G>C , CM000681.1:g.15303024G>C GRCh37
NC_000019.8:g.15164024G>C NCBI36
NG_009819.1:g.13769C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.426C>G MANE Select ENSP00000263388.1:p.Phe142Leu
ENST00000263388.6:c.426C>G ENSP00000263388.1:p.Phe142Leu
ENST00000601011.1:c.423C>G ENSP00000473138.1:p.Phe141Leu
NM_000435.2:c.426C>G NP_000426.2:p.Phe142Leu
XM_005259924.3:c.426C>G XP_005259981.1:p.Phe142Leu
XM_005259924.4:c.426C>G XP_005259981.1:p.Phe142Leu
NM_000435.3:c.426C>G MANE Select NP_000426.2:p.Phe142Leu