Canonical Allele Identifier: CA514362968

Gene: NCF4 NCF4-AS1

Linked Data

• ClinVar Variation Id: 2759642
• ClinVar RCV Id: RCV003526348
• dbSNP Id: rs1424343568
• gnomAD v2: 22-37260969-C-A
• gnomAD v4: 22-36864927-C-A
• MyVariant Identifiers: chr22:g.37260969C>A (hg19) ; chr22:g.36864927C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36864927C>A , CM000684.2:g.36864927C>A	GRCh38
NC_000022.10:g.37260969C>A , CM000684.1:g.37260969C>A	GRCh37
NC_000022.9:g.35590915C>A	NCBI36
NG_023400.1:g.8940C>A , LRG_159:g.8940C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248899.11:c.126C>A (NCF4) MANE Select	ENSP00000248899.6:p.Val42=
ENST00000397147.7:c.126C>A (NCF4)	ENSP00000380334.4:p.Val42=
ENST00000650698.1:c.-184C>A (NCF4)	ENSP00000498381.1:n.-184C>A
ENST00000650827.1:c.-184C>A (NCF4)	ENSP00000498212.1:n.-184C>A
ENST00000651053.1:n.431C>A (NCF4)
ENST00000248899.10:c.126C>A (NCF4)	ENSP00000248899.6:p.Val42=
ENST00000397147.6:c.126C>A (NCF4)	ENSP00000380334.4:p.Val42=
ENST00000447071.5:c.-184C>A (NCF4)	ENSP00000414958.1:n.-184C>A
NM_000631.4:c.126C>A (NCF4)	NP_000622.2:p.Val42=
NM_013416.3:c.126C>A , LRG_159t1:c.126C>A (NCF4)	NP_038202.2:p.Val42=
XM_011530198.1:c.300C>A (NCF4)	XP_011528500.1:p.Val100=
XM_011530199.1:c.270C>A (NCF4)	XP_011528501.1:p.Val90=
NR_147197.1:n.351+5166G>T (NCF4-AS1)
XM_017028808.1:c.-184C>A (NCF4)	XP_016884297.1:n.-184C>A
NM_000631.5:c.126C>A (NCF4) MANE Select	NP_000622.2:p.Val42=
NM_013416.4:c.126C>A (NCF4)	NP_038202.2:p.Val42=