Canonical Allele Identifier: CA3740275
Gene: NOTCH4 HGNC NCBI
COSMIC:
COSM4417696 (not active)
MyVariant.info:
GRCh38 chr6:g.32222613T>G
GRCh37 chr6:g.32190390T>G
Revel Score:
ENST00000375023 (MANE Select) 0.212
gnomAD v2:
6:32190390 T / G
gnomAD v3:
6:32222613 T / G
gnomAD v4:
chr6-32222613-T-G
Joint Max Group AF 0.49818332 (EAS)
Genomes Max Group AF 0.47697528 (EAS)
Exomes Max Group AF 0.49922073 (EAS)
ClinVar RCV:
RCV001720784
ClinVar Variation:
1294880
dbSNP:
915894
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32222613T>G , CM000668.2:g.32222613T>G GRCh38
NC_000006.11:g.32190390T>G , CM000668.1:g.32190390T>G GRCh37
NC_000006.10:g.32298368T>G NCBI36
NG_028190.1:g.6455A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.349A>C MANE Select ENSP00000364163.3:p.Lys117Gln
ENST00000473562.1:n.478A>C
NM_004557.3:c.349A>C NP_004548.3:p.Lys117Gln
NR_134949.1:n.488A>C
NR_134950.1:n.488A>C
NM_004557.4:c.349A>C MANE Select NP_004548.3:p.Lys117Gln
NR_134949.2:n.488A>C
NR_134950.2:n.488A>C
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