Canonical Allele Identifier: CA3740141
Gene: NOTCH4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1289316
ClinVar RCV Id: RCV001713904
dbSNP Id: rs520688
ExAC: 6:32188642 T / C
gnomAD v2: 6-32188642-T-C
gnomAD v3: 6-32220865-T-C
gnomAD v4: 6-32220865-T-C
MyVariant Identifiers: chr6:g.32188642T>C (hg19) chr6:g.32220865T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220865T>C , CM000668.2:g.32220865T>C GRCh38
NC_000006.11:g.32188642T>C , CM000668.1:g.32188642T>C GRCh37
NC_000006.10:g.32296620T>C NCBI36
NG_028190.1:g.8203A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.813A>G MANE Select ENSP00000364163.3:p.Pro271=
ENST00000473562.1:n.942A>G
NM_004557.3:c.813A>G NP_004548.3:p.Pro271=
NR_134949.1:n.952A>G
NR_134950.1:n.952A>G
NM_004557.4:c.813A>G MANE Select NP_004548.3:p.Pro271=
NR_134949.2:n.952A>G
NR_134950.2:n.952A>G
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Search 100 bp 3'