Canonical Allele Identifier: CA363557700
Gene: NOTCH4 HGNC NCBI

Linked Data

gnomAD v4: 6-32220869-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220869C>A , CM000668.2:g.32220869C>A GRCh38
NC_000006.11:g.32188646C>A , CM000668.1:g.32188646C>A GRCh37
NC_000006.10:g.32296624C>A NCBI36
NG_028190.1:g.8199G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.809G>T MANE Select ENSP00000364163.3:p.Gly270Val
ENST00000473562.1:n.938G>T
NM_004557.3:c.809G>T NP_004548.3:p.Gly270Val
NR_134949.1:n.948G>T
NR_134950.1:n.948G>T
NM_004557.4:c.809G>T MANE Select NP_004548.3:p.Gly270Val
NR_134949.2:n.948G>T
NR_134950.2:n.948G>T