Canonical Allele Identifier: CA3739315
Gene: NOTCH4 HGNC NCBI
COSMIC:
COSM1443593 (not active)
MyVariant.info:
GRCh38 chr6:g.32200994G>T
GRCh37 chr6:g.32168771G>T
gnomAD v2:
6:32168771 G / T
gnomAD v3:
6:32200994 G / T
gnomAD v4:
chr6-32200994-G-T
Joint Max Group AF 0.14373879 (NFE)
Genomes Max Group AF 0.13094402 (NFE)
Exomes Max Group AF 0.14440958 (NFE)
ClinVar RCV:
RCV001659280
ClinVar Variation:
1259043
dbSNP:
3134942
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32200994G>T , CM000668.2:g.32200994G>T GRCh38
NC_000006.11:g.32168771G>T , CM000668.1:g.32168771G>T GRCh37
NC_000006.10:g.32276749G>T NCBI36
NG_028190.1:g.28074C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.4152C>A MANE Select ENSP00000364163.3:p.Val1384=
ENST00000474612.1:n.2813C>A
NM_004557.3:c.4152C>A NP_004548.3:p.Val1384=
NR_134949.1:n.3869C>A
NR_134950.1:n.3767C>A
NM_004557.4:c.4152C>A MANE Select NP_004548.3:p.Val1384=
NR_134949.2:n.3869C>A
NR_134950.2:n.3767C>A
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