Canonical Allele Identifier: CA363557568
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs2127488307
gnomAD v4: 6-32220812-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220812C>T , CM000668.2:g.32220812C>T GRCh38
NC_000006.11:g.32188589C>T , CM000668.1:g.32188589C>T GRCh37
NC_000006.10:g.32296567C>T NCBI36
NG_028190.1:g.8256G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.866G>A MANE Select ENSP00000364163.3:p.Gly289Asp
ENST00000473562.1:n.995G>A
NM_004557.3:c.866G>A NP_004548.3:p.Gly289Asp
NR_134949.1:n.1005G>A
NR_134950.1:n.1005G>A
NM_004557.4:c.866G>A MANE Select NP_004548.3:p.Gly289Asp
NR_134949.2:n.1005G>A
NR_134950.2:n.1005G>A