Canonical Allele Identifier: CA363557217
Gene: NOTCH4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220546G>T , CM000668.2:g.32220546G>T GRCh38
NC_000006.11:g.32188323G>T , CM000668.1:g.32188323G>T GRCh37
NC_000006.10:g.32296301G>T NCBI36
NG_028190.1:g.8522C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.1018C>A MANE Select ENSP00000364163.3:p.His340Asn
ENST00000473562.1:n.1147C>A
NM_004557.3:c.1018C>A NP_004548.3:p.His340Asn
NR_134949.1:n.1157C>A
NR_134950.1:n.1157C>A
NM_004557.4:c.1018C>A MANE Select NP_004548.3:p.His340Asn
NR_134949.2:n.1157C>A
NR_134950.2:n.1157C>A