Canonical Allele Identifier: CA3740079
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs766040619
ExAC: 6:32188270 A / G
gnomAD v2: 6-32188270-A-G
gnomAD v3: 6-32220493-A-G
gnomAD v4: 6-32220493-A-G
MyVariant Identifiers: chr6:g.32188270A>G (hg19) chr6:g.32220493A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220493A>G , CM000668.2:g.32220493A>G GRCh38
NC_000006.11:g.32188270A>G , CM000668.1:g.32188270A>G GRCh37
NC_000006.10:g.32296248A>G NCBI36
NG_028190.1:g.8575T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.1071T>C MANE Select ENSP00000364163.3:p.Asp357=
ENST00000473562.1:n.1200T>C
NM_004557.3:c.1071T>C NP_004548.3:p.Asp357=
NR_134949.1:n.1210T>C
NR_134950.1:n.1210T>C
NM_004557.4:c.1071T>C MANE Select NP_004548.3:p.Asp357=
NR_134949.2:n.1210T>C
NR_134950.2:n.1210T>C
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