Canonical Allele Identifier: CA339959

Gene: NCF1

Linked Data

• ClinVar Variation Id: 2249
• ClinVar RCV Id: RCV000002337 ; RCV001090891 ; RCV002283438
• dbSNP Id: rs4029402
• ExAC: 7:74191612 GGT / G
• gnomAD v2: 7-74191612-GGT-G
• gnomAD v3: 7-74777266-GGT-G
• gnomAD v4: 7-74777266-GGT-G
• COSMIC: COSM6218338
• MyVariant Identifiers: chr7:g.74191615_74191616del (hg19) ; chr7:g.74191613_74191614del (hg19) ; chr7:g.74777269_74777270del (hg38) ; chr7:g.74777267_74777268del (hg38)
• PubMed: PMID:2011585 ; PMID:7678602 ; PMID:9329953 ; PMID:10706888 ; PMID:11133775 ; PMID:22876374

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74777269_74777270del , CM000669.2:g.74777269_74777270del	GRCh38
NC_000007.13:g.74191615_74191616del , CM000669.1:g.74191615_74191616del	GRCh37
NC_000007.12:g.73829551_73829552del	NCBI36
NG_009078.2:g.8306_8307del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.75_76del MANE Select	ENSP00000289473.4:p.Tyr26HisfsTer26
ENST00000289473.10:c.75_76del	ENSP00000289473.4:p.Tyr26HisfsTer26
ENST00000289473.8:c.75_76del	ENSP00000289473.4:p.Tyr26HisfsTer26
ENST00000398421.6:n.96_97del
ENST00000438106.5:n.3_4del
ENST00000443956.7:n.48_49del
ENST00000449343.6:n.96_97del
NM_000265.5:c.75_76del	NP_000256.4:p.Tyr26HisfsTer26
XM_005250543.3:c.75_76del	XP_005250600.2:p.Tyr26HisfsTer26
XM_005250544.3:c.75_76del	XP_005250601.2:p.Tyr26HisfsTer26
XM_011516498.1:c.75_76del	XP_011514800.1:p.Tyr26HisfsTer26
XM_011516499.1:c.75_76del	XP_011514801.1:p.Tyr26HisfsTer26
XM_011516500.1:c.75_76del	XP_011514802.1:p.Tyr26HisfsTer26
XM_011516501.1:c.-77_-76del	XP_011514803.1:n.-77_-76del
XR_242262.3:n.130_131del
XR_927515.1:n.130_131del
NM_000265.6:c.75_76del	NP_000256.4:p.Tyr26HisfsTer26
NM_000265.7:c.75_76del MANE Select	NP_000256.4:p.Tyr26HisfsTer26