Canonical Allele Identifier: CA363557609
Gene: NOTCH4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220830T>A , CM000668.2:g.32220830T>A GRCh38
NC_000006.11:g.32188607T>A , CM000668.1:g.32188607T>A GRCh37
NC_000006.10:g.32296585T>A NCBI36
NG_028190.1:g.8238A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.848A>T MANE Select ENSP00000364163.3:p.His283Leu
ENST00000473562.1:n.977A>T
NM_004557.3:c.848A>T NP_004548.3:p.His283Leu
NR_134949.1:n.987A>T
NR_134950.1:n.987A>T
NM_004557.4:c.848A>T MANE Select NP_004548.3:p.His283Leu
NR_134949.2:n.987A>T
NR_134950.2:n.987A>T