Canonical Allele Identifier: CA10212869

Gene: NCF4 NCF4-AS1

Linked Data

• ClinVar Variation Id: 425281
• ClinVar RCV Id: RCV000488142 ; RCV001200053
• dbSNP Id: rs28445840
• ExAC: 22:37260960 G / A
• gnomAD v2: 22-37260960-G-A
• gnomAD v3: 22-36864918-G-A
• gnomAD v4: 22-36864918-G-A
• MyVariant Identifiers: chr22:g.37260960G>A (hg19) ; chr22:g.36864918G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36864918G>A , CM000684.2:g.36864918G>A	GRCh38
NC_000022.10:g.37260960G>A , CM000684.1:g.37260960G>A	GRCh37
NC_000022.9:g.35590906G>A	NCBI36
NG_023400.1:g.8931G>A , LRG_159:g.8931G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248899.11:c.118-1G>A (NCF4) MANE Select	ENSP00000248899.6:n.118-1G>A
ENST00000397147.7:c.118-1G>A (NCF4)	ENSP00000380334.4:n.118-1G>A
ENST00000650698.1:c.-192-1G>A (NCF4)	ENSP00000498381.1:n.-192-1G>A
ENST00000650827.1:c.-192-1G>A (NCF4)	ENSP00000498212.1:n.-192-1G>A
ENST00000651053.1:n.423-1G>A (NCF4)
ENST00000248899.10:c.118-1G>A (NCF4)	ENSP00000248899.6:n.118-1G>A
ENST00000397147.6:c.118-1G>A (NCF4)	ENSP00000380334.4:n.118-1G>A
ENST00000447071.5:c.-192-1G>A (NCF4)	ENSP00000414958.1:n.-192-1G>A
NM_000631.4:c.118-1G>A (NCF4)	NP_000622.2:n.118-1G>A
NM_013416.3:c.118-1G>A , LRG_159t1:c.118-1G>A (NCF4)	NP_038202.2:n.118-1G>A
XM_011530198.1:c.292-1G>A (NCF4)	XP_011528500.1:n.292-1G>A
XM_011530199.1:c.262-1G>A (NCF4)	XP_011528501.1:n.262-1G>A
NR_147197.1:n.351+5175C>T (NCF4-AS1)
XM_017028808.1:c.-192-1G>A (NCF4)	XP_016884297.1:n.-192-1G>A
NM_000631.5:c.118-1G>A (NCF4) MANE Select	NP_000622.2:n.118-1G>A
NM_013416.4:c.118-1G>A (NCF4)	NP_038202.2:n.118-1G>A