Canonical Allele Identifier: CA404531850
Gene: NOTCH3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15191641C>G , CM000681.2:g.15191641C>G GRCh38
NC_000019.9:g.15302452C>G , CM000681.1:g.15302452C>G GRCh37
NC_000019.8:g.15163452C>G NCBI36
NG_009819.1:g.14341G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.819G>C MANE Select ENSP00000263388.1:p.Glu273Asp
ENST00000263388.6:c.819G>C ENSP00000263388.1:p.Glu273Asp
ENST00000601011.1:c.816G>C ENSP00000473138.1:p.Glu272Asp
NM_000435.2:c.819G>C NP_000426.2:p.Glu273Asp
XM_005259924.3:c.819G>C XP_005259981.1:p.Glu273Asp
XM_005259924.4:c.819G>C XP_005259981.1:p.Glu273Asp
NM_000435.3:c.819G>C MANE Select NP_000426.2:p.Glu273Asp