Canonical Allele Identifier: CA3740088
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs753855314
ExAC: 6:32188296 CG / C
gnomAD v2: 6-32188296-CG-C
gnomAD v4: 6-32220519-CG-C
MyVariant Identifiers: chr6:g.32188297del (hg19) chr6:g.32220520del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220520del , CM000668.2:g.32220520del GRCh38
NC_000006.11:g.32188297del , CM000668.1:g.32188297del GRCh37
NC_000006.10:g.32296275del NCBI36
NG_028190.1:g.8548del

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.1044del MANE Select ENSP00000364163.3:p.Gly349AlafsTer?
ENST00000473562.1:n.1173del
NM_004557.3:c.1044del NP_004548.3:p.Gly349AlafsTer?
NR_134949.1:n.1183del
NR_134950.1:n.1183del
NM_004557.4:c.1044del MANE Select NP_004548.3:p.Gly349AlafsTer?
NR_134949.2:n.1183del
NR_134950.2:n.1183del
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Search 100 bp 3'