Canonical Allele Identifier: CA404513289
Gene: NOTCH3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180141G>C , CM000681.2:g.15180141G>C GRCh38
NC_000019.9:g.15290952G>C , CM000681.1:g.15290952G>C GRCh37
NC_000019.8:g.15151952G>C NCBI36
NG_009819.1:g.25841C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3258C>G MANE Select ENSP00000263388.1:p.Asp1086Glu
ENST00000263388.6:c.3258C>G ENSP00000263388.1:p.Asp1086Glu
ENST00000601011.1:c.3099C>G ENSP00000473138.1:p.Asp1033Glu
NM_000435.2:c.3258C>G NP_000426.2:p.Asp1086Glu
XM_005259924.3:c.3102C>G XP_005259981.1:p.Asp1034Glu
XM_005259924.4:c.3102C>G XP_005259981.1:p.Asp1034Glu
NM_000435.3:c.3258C>G MANE Select NP_000426.2:p.Asp1086Glu