Canonical Allele Identifier: CA14940211
Gene: NCF4 HGNC NCBI
NCF4-AS1 HGNC NCBI
COSMIC:
COSN18919149 (not active)
MyVariant.info:
GRCh38 chr22:g.36862461T>C
GRCh37 chr22:g.37258503T>C
gnomAD v2:
22:37258503 T / C
gnomAD v3:
22:36862461 T / C
gnomAD v4:
chr22-36862461-T-C
Joint Max Group AF 0.58278638 (AFR)
Genomes Max Group AF 0.58278638 (AFR)
ClinVar RCV:
RCV001511733
ClinVar Variation:
1165017
dbSNP:
4821544
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36862461T>C , CM000684.2:g.36862461T>C GRCh38
NC_000022.10:g.37258503T>C , CM000684.1:g.37258503T>C GRCh37
NC_000022.9:g.35588449T>C NCBI36
NG_023400.1:g.6474T>C , LRG_159:g.6474T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000248899.11:c.32+1258T>C (NCF4) MANE Select ENSP00000248899.6:n.32+1258T>C
ENST00000397147.7:c.32+1258T>C (NCF4) ENSP00000380334.4:n.32+1258T>C
ENST00000650827.1:c.-278+74T>C (NCF4) ENSP00000498212.1:n.-278+74T>C
ENST00000248899.10:c.32+1258T>C (NCF4) ENSP00000248899.6:n.32+1258T>C
ENST00000397147.6:c.32+1258T>C (NCF4) ENSP00000380334.4:n.32+1258T>C
ENST00000447071.5:c.-193+1258T>C (NCF4) ENSP00000414958.1:n.-193+1258T>C
NM_000631.4:c.32+1258T>C (NCF4) NP_000622.2:n.32+1258T>C
NM_013416.3:c.32+1258T>C , LRG_159t1:c.32+1258T>C (NCF4) NP_038202.2:n.32+1258T>C
XM_011530198.1:c.-194T>C (NCF4) XP_011528500.1:n.-194T>C
XM_011530199.1:c.97+646T>C (NCF4) XP_011528501.1:n.97+646T>C
NR_147197.1:n.351+7632A>G (NCF4-AS1)
XM_017028808.1:c.-278+646T>C (NCF4) XP_016884297.1:n.-278+646T>C
NM_000631.5:c.32+1258T>C (NCF4) MANE Select NP_000622.2:n.32+1258T>C
NM_013416.4:c.32+1258T>C (NCF4) NP_038202.2:n.32+1258T>C
Search 100 bp 5'
Search 100 bp 3'