Canonical Allele Identifier: CA136913564
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs520803
gnomAD v4: 6-32220826-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220826C>G , CM000668.2:g.32220826C>G GRCh38
NC_000006.11:g.32188603C>G , CM000668.1:g.32188603C>G GRCh37
NC_000006.10:g.32296581C>G NCBI36
NG_028190.1:g.8242G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.852G>C MANE Select ENSP00000364163.3:p.Gln284His
ENST00000473562.1:n.981G>C
NM_004557.3:c.852G>C NP_004548.3:p.Gln284His
NR_134949.1:n.991G>C
NR_134950.1:n.991G>C
NM_004557.4:c.852G>C MANE Select NP_004548.3:p.Gln284His
NR_134949.2:n.991G>C
NR_134950.2:n.991G>C