Canonical Allele Identifier: CA3740279
Gene: NOTCH4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1293220
ClinVar RCV Id: RCV001717435
dbSNP Id: rs443198
ExAC: 6:32190406 A / G
gnomAD v2: 6-32190406-A-G
gnomAD v3: 6-32222629-A-G
gnomAD v4: 6-32222629-A-G
MyVariant Identifiers: chr6:g.32190406A>G (hg19) chr6:g.32222629A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32222629A>G , CM000668.2:g.32222629A>G GRCh38
NC_000006.11:g.32190406A>G , CM000668.1:g.32190406A>G GRCh37
NC_000006.10:g.32298384A>G NCBI36
NG_028190.1:g.6439T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.333T>C MANE Select ENSP00000364163.3:p.Gly111=
ENST00000473562.1:n.462T>C
NM_004557.3:c.333T>C NP_004548.3:p.Gly111=
NR_134949.1:n.472T>C
NR_134950.1:n.472T>C
NM_004557.4:c.333T>C MANE Select NP_004548.3:p.Gly111=
NR_134949.2:n.472T>C
NR_134950.2:n.472T>C
Search 100 bp 5'
Search 100 bp 3'