Canonical Allele Identifier: CA3740205
Gene: NOTCH4 HGNC NCBI
COSMIC:
COSM6352205 (not active)
MyVariant.info:
GRCh38 chr6:g.32221166G>A
GRCh37 chr6:g.32188943G>A
Revel Score:
ENST00000375023 (MANE Select) 0.177
gnomAD v2:
6:32188943 G / A
gnomAD v3:
6:32221166 G / A
gnomAD v4:
chr6-32221166-G-A
Joint Max Group AF 0.07597859 (EAS)
Genomes Max Group AF 0.05518716 (EAS)
Exomes Max Group AF 0.07807981 (EAS)
ClinVar RCV:
RCV000879091
ClinVar Variation:
707916
dbSNP:
2071282
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32221166G>A , CM000668.2:g.32221166G>A GRCh38
NC_000006.11:g.32188943G>A , CM000668.1:g.32188943G>A GRCh37
NC_000006.10:g.32296921G>A NCBI36
NG_028190.1:g.7902C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.611C>T MANE Select ENSP00000364163.3:p.Pro204Leu
ENST00000473562.1:n.740C>T
NM_004557.3:c.611C>T NP_004548.3:p.Pro204Leu
NR_134949.1:n.750C>T
NR_134950.1:n.750C>T
NM_004557.4:c.611C>T MANE Select NP_004548.3:p.Pro204Leu
NR_134949.2:n.750C>T
NR_134950.2:n.750C>T
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