Canonical Allele Identifier: CA363557557
Gene: NOTCH4 HGNC NCBI

Linked Data

gnomAD v4: 6-32220806-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220806C>G , CM000668.2:g.32220806C>G GRCh38
NC_000006.11:g.32188583C>G , CM000668.1:g.32188583C>G GRCh37
NC_000006.10:g.32296561C>G NCBI36
NG_028190.1:g.8262G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.872G>C MANE Select ENSP00000364163.3:p.Cys291Ser
ENST00000473562.1:n.1001G>C
NM_004557.3:c.872G>C NP_004548.3:p.Cys291Ser
NR_134949.1:n.1011G>C
NR_134950.1:n.1011G>C
NM_004557.4:c.872G>C MANE Select NP_004548.3:p.Cys291Ser
NR_134949.2:n.1011G>C
NR_134950.2:n.1011G>C