Canonical Allele Identifier: CA3740084
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs766348245
ExAC: 6:32188294 G / GC
gnomAD v2: 6-32188294-G-GC
gnomAD v4: 6-32220517-G-GC
COSMIC: COSM5830408
MyVariant Identifiers: chr6:g.32188294_32188295insC (hg19) chr6:g.32220517_32220518insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220519dup , CM000668.2:g.32220519dup GRCh38
NC_000006.11:g.32188296dup , CM000668.1:g.32188296dup GRCh37
NC_000006.10:g.32296274dup NCBI36
NG_028190.1:g.8550dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.1046dup MANE Select ENSP00000364163.3:p.Thr350HisfsTer4
ENST00000473562.1:n.1175dup
NM_004557.3:c.1046dup NP_004548.3:p.Thr350HisfsTer4
NR_134949.1:n.1185dup
NR_134950.1:n.1185dup
NM_004557.4:c.1046dup MANE Select NP_004548.3:p.Thr350HisfsTer4
NR_134949.2:n.1185dup
NR_134950.2:n.1185dup
Search 100 bp 5'
Search 100 bp 3'