Canonical Allele Identifier: CA10575546
Gene: NCF4 HGNC NCBI
NCF4-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 30193
ClinVar RCV Id: RCV000023112
dbSNP Id: rs876657377

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36864944_36864953del , CM000684.2:g.36864944_36864953del GRCh38
NC_000022.10:g.37260986_37260995del , CM000684.1:g.37260986_37260995del GRCh37
NC_000022.9:g.35590932_35590941del NCBI36
NG_023400.1:g.8957_8966del , LRG_159:g.8957_8966del

Transcript Alleles

HGVS Amino-acid change
ENST00000248899.11:c.143_152del (NCF4) MANE Select ENSP00000248899.6:p.Lys48ThrfsTer?
ENST00000397147.7:c.143_152del (NCF4) ENSP00000380334.4:p.Lys48ThrfsTer?
ENST00000650698.1:c.-167_-158del (NCF4) ENSP00000498381.1:n.-167_-158del
ENST00000650827.1:c.-167_-158del (NCF4) ENSP00000498212.1:n.-167_-158del
ENST00000651053.1:n.448_457del (NCF4)
ENST00000248899.10:c.143_152del (NCF4) ENSP00000248899.6:p.Lys48ThrfsTer?
ENST00000397147.6:c.143_152del (NCF4) ENSP00000380334.4:p.Lys48ThrfsTer?
ENST00000447071.5:c.-167_-158del (NCF4) ENSP00000414958.1:n.-167_-158del
NM_000631.4:c.143_152del (NCF4) NP_000622.2:p.Lys48ThrfsTer?
NM_013416.3:c.143_152del , LRG_159t1:c.143_152del (NCF4) NP_038202.2:p.Lys48ThrfsTer?
XM_011530198.1:c.317_326del (NCF4) XP_011528500.1:p.Lys106ThrfsTer?
XM_011530199.1:c.287_296del (NCF4) XP_011528501.1:p.Lys96ThrfsTer?
NR_147197.1:n.351+5140_351+5149del (NCF4-AS1)
XM_017028808.1:c.-167_-158del (NCF4) XP_016884297.1:n.-167_-158del
NM_000631.5:c.143_152del (NCF4) MANE Select NP_000622.2:p.Lys48ThrfsTer?
NM_013416.4:c.143_152del (NCF4) NP_038202.2:p.Lys48ThrfsTer?