Canonical Allele Identifier: CA10212864

Gene: NCF4 NCF4-AS1

Linked Data

• ClinVar Variation Id: 2077644
• ClinVar RCV Id: RCV002985629
• dbSNP Id: rs764650019
• ExAC: 22:37260933 CCCTCCCCACAA / C
• gnomAD v2: 22-37260933-CCCTCCCCACAA-C
• gnomAD v3: 22-36864891-CCCTCCCCACAA-C
• gnomAD v4: 22-36864891-CCCTCCCCACAA-C
• MyVariant Identifiers: chr22:g.37260934_37260944del (hg19) ; chr22:g.36864893_36864903del (hg38) ; chr22:g.36864892_36864902del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36864896_36864906del , CM000684.2:g.36864896_36864906del	GRCh38
NC_000022.10:g.37260938_37260948del , CM000684.1:g.37260938_37260948del	GRCh37
NC_000022.9:g.35590884_35590894del	NCBI36
NG_023400.1:g.8909_8919del , LRG_159:g.8909_8919del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248899.11:c.118-23_118-13del (NCF4) MANE Select	ENSP00000248899.6:n.118-23_118-13del
ENST00000397147.7:c.118-23_118-13del (NCF4)	ENSP00000380334.4:n.118-23_118-13del
ENST00000650698.1:c.-192-23_-192-13del (NCF4)	ENSP00000498381.1:n.-192-23_-192-13del
ENST00000650827.1:c.-192-23_-192-13del (NCF4)	ENSP00000498212.1:n.-192-23_-192-13del
ENST00000651053.1:n.423-23_423-13del (NCF4)
ENST00000248899.10:c.118-23_118-13del (NCF4)	ENSP00000248899.6:n.118-23_118-13del
ENST00000397147.6:c.118-23_118-13del (NCF4)	ENSP00000380334.4:n.118-23_118-13del
ENST00000447071.5:c.-192-23_-192-13del (NCF4)	ENSP00000414958.1:n.-192-23_-192-13del
NM_000631.4:c.118-23_118-13del (NCF4)	NP_000622.2:n.118-23_118-13del
NM_013416.3:c.118-23_118-13del , LRG_159t1:c.118-23_118-13del (NCF4)	NP_038202.2:n.118-23_118-13del
XM_011530198.1:c.292-23_292-13del (NCF4)	XP_011528500.1:n.292-23_292-13del
XM_011530199.1:c.262-23_262-13del (NCF4)	XP_011528501.1:n.262-23_262-13del
NR_147197.1:n.351+5191_351+5201del (NCF4-AS1)
XM_017028808.1:c.-192-23_-192-13del (NCF4)	XP_016884297.1:n.-192-23_-192-13del
NM_000631.5:c.118-23_118-13del (NCF4) MANE Select	NP_000622.2:n.118-23_118-13del
NM_013416.4:c.118-23_118-13del (NCF4)	NP_038202.2:n.118-23_118-13del