Canonical Allele Identifier: CA3740292
Gene: NOTCH4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1228635
ClinVar RCV Id: RCV001616266
dbSNP Id: rs8192569
ExAC: 6:32190484 G / A
gnomAD v2: 6-32190484-G-A
gnomAD v3: 6-32222707-G-A
gnomAD v4: 6-32222707-G-A
MyVariant Identifiers: chr6:g.32190484G>A (hg19) chr6:g.32222707G>A (hg38)
Allelic Epigenome: Alellic Epigenome (raw data)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32222707G>A , CM000668.2:g.32222707G>A GRCh38
NC_000006.11:g.32190484G>A , CM000668.1:g.32190484G>A GRCh37
NC_000006.10:g.32298462G>A NCBI36
NG_028190.1:g.6361C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.255C>T MANE Select ENSP00000364163.3:p.Pro85=
ENST00000473562.1:n.384C>T
NM_004557.3:c.255C>T NP_004548.3:p.Pro85=
NR_134949.1:n.394C>T
NR_134950.1:n.394C>T
NM_004557.4:c.255C>T MANE Select NP_004548.3:p.Pro85=
NR_134949.2:n.394C>T
NR_134950.2:n.394C>T
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Search 100 bp 3'