Canonical Allele Identifier: CA136900208
Gene: NOTCH4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1294876
ClinVar RCV Id: RCV001720780
dbSNP Id: rs35083974
gnomAD v2: 6-32170464-AG-A
gnomAD v3: 6-32202687-AG-A
gnomAD v4: 6-32202687-AG-A
MyVariant Identifiers: chr6:g.32170465del (hg19) chr6:g.32202688del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32202688del , CM000668.2:g.32202688del GRCh38
NC_000006.11:g.32170465del , CM000668.1:g.32170465del GRCh37
NC_000006.10:g.32278443del NCBI36
NG_028190.1:g.26380del

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.3232-89del MANE Select ENSP00000364163.3:n.3232-89del
ENST00000474612.1:n.1229del
NM_004557.3:c.3232-89del NP_004548.3:n.3232-89del
NR_134949.1:n.3472+1082del
NR_134950.1:n.3370+1082del
NM_004557.4:c.3232-89del MANE Select NP_004548.3:n.3232-89del
NR_134949.2:n.3472+1082del
NR_134950.2:n.3370+1082del
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