Canonical Allele Identifier: CA3740136
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs769317064
gnomAD v2: 6-32188601-C-T
gnomAD v3: 6-32220824-C-T
gnomAD v4: 6-32220824-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220824C>T , CM000668.2:g.32220824C>T GRCh38
NC_000006.11:g.32188601C>T , CM000668.1:g.32188601C>T GRCh37
NC_000006.10:g.32296579C>T NCBI36
NG_028190.1:g.8244G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.854G>A MANE Select ENSP00000364163.3:p.Cys285Tyr
ENST00000473562.1:n.983G>A
NM_004557.3:c.854G>A NP_004548.3:p.Cys285Tyr
NR_134949.1:n.993G>A
NR_134950.1:n.993G>A
NM_004557.4:c.854G>A MANE Select NP_004548.3:p.Cys285Tyr
NR_134949.2:n.993G>A
NR_134950.2:n.993G>A