Canonical Allele Identifier: CA411378870

Gene: NCF4 NCF4-AS1

Linked Data

• dbSNP Id: rs1402948199
• gnomAD v2: 22-37260989-G-C
• gnomAD v4: 22-36864947-G-C
• MyVariant Identifiers: chr22:g.37260989G>C (hg19) ; chr22:g.36864947G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36864947G>C , CM000684.2:g.36864947G>C	GRCh38
NC_000022.10:g.37260989G>C , CM000684.1:g.37260989G>C	GRCh37
NC_000022.9:g.35590935G>C	NCBI36
NG_023400.1:g.8960G>C , LRG_159:g.8960G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248899.11:c.146G>C (NCF4) MANE Select	ENSP00000248899.6:p.Gly49Ala
ENST00000397147.7:c.146G>C (NCF4)	ENSP00000380334.4:p.Gly49Ala
ENST00000650698.1:c.-164G>C (NCF4)	ENSP00000498381.1:n.-164G>C
ENST00000650827.1:c.-164G>C (NCF4)	ENSP00000498212.1:n.-164G>C
ENST00000651053.1:n.451G>C (NCF4)
ENST00000248899.10:c.146G>C (NCF4)	ENSP00000248899.6:p.Gly49Ala
ENST00000397147.6:c.146G>C (NCF4)	ENSP00000380334.4:p.Gly49Ala
ENST00000447071.5:c.-164G>C (NCF4)	ENSP00000414958.1:n.-164G>C
NM_000631.4:c.146G>C (NCF4)	NP_000622.2:p.Gly49Ala
NM_013416.3:c.146G>C , LRG_159t1:c.146G>C (NCF4)	NP_038202.2:p.Gly49Ala
XM_011530198.1:c.320G>C (NCF4)	XP_011528500.1:p.Gly107Ala
XM_011530199.1:c.290G>C (NCF4)	XP_011528501.1:p.Gly97Ala
NR_147197.1:n.351+5146C>G (NCF4-AS1)
XM_017028808.1:c.-164G>C (NCF4)	XP_016884297.1:n.-164G>C
NM_000631.5:c.146G>C (NCF4) MANE Select	NP_000622.2:p.Gly49Ala
NM_013416.4:c.146G>C (NCF4)	NP_038202.2:p.Gly49Ala