Canonical Allele Identifier: CA3740093
Gene: NOTCH4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2358399
ClinVar RCV Id: RCV004198255
dbSNP Id: rs144492578
ExAC: 6:32188317 C / T
gnomAD v2: 6-32188317-C-T
gnomAD v3: 6-32220540-C-T
gnomAD v4: 6-32220540-C-T
COSMIC: COSM3625404
MyVariant Identifiers: chr6:g.32188317C>T (hg19) chr6:g.32220540C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220540C>T , CM000668.2:g.32220540C>T GRCh38
NC_000006.11:g.32188317C>T , CM000668.1:g.32188317C>T GRCh37
NC_000006.10:g.32296295C>T NCBI36
NG_028190.1:g.8528G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.1024G>A MANE Select ENSP00000364163.3:p.Val342Met
ENST00000473562.1:n.1153G>A
NM_004557.3:c.1024G>A NP_004548.3:p.Val342Met
NR_134949.1:n.1163G>A
NR_134950.1:n.1163G>A
NM_004557.4:c.1024G>A MANE Select NP_004548.3:p.Val342Met
NR_134949.2:n.1163G>A
NR_134950.2:n.1163G>A
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