Canonical Allele Identifier: CA3740083
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs752483729
ExAC: 6:32188286 C / A
gnomAD v2: 6-32188286-C-A
gnomAD v3: 6-32220509-C-A
gnomAD v4: 6-32220509-C-A
MyVariant Identifiers: chr6:g.32188286C>A (hg19) chr6:g.32220509C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220509C>A , CM000668.2:g.32220509C>A GRCh38
NC_000006.11:g.32188286C>A , CM000668.1:g.32188286C>A GRCh37
NC_000006.10:g.32296264C>A NCBI36
NG_028190.1:g.8559G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.1055G>T MANE Select ENSP00000364163.3:p.Cys352Phe
ENST00000473562.1:n.1184G>T
NM_004557.3:c.1055G>T NP_004548.3:p.Cys352Phe
NR_134949.1:n.1194G>T
NR_134950.1:n.1194G>T
NM_004557.4:c.1055G>T MANE Select NP_004548.3:p.Cys352Phe
NR_134949.2:n.1194G>T
NR_134950.2:n.1194G>T
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