Canonical Allele Identifier: CA4298223

Gene: NCF1

Linked Data

• ClinVar Variation Id: 426990
• ClinVar RCV Id: RCV000489061 ; RCV000763595 ; RCV000991165 ; RCV000761449 ; RCV002298619
• dbSNP Id: rs145360423
• ExAC: 7:74197872 G / A
• gnomAD v2: 7-74197872-G-A
• gnomAD v3: 7-74783529-G-A
• gnomAD v4: 7-74783529-G-A
• MyVariant Identifiers: chr7:g.74197872G>A (hg19) ; chr7:g.74783529G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74783529G>A , CM000669.2:g.74783529G>A	GRCh38
NC_000007.13:g.74197872G>A , CM000669.1:g.74197872G>A	GRCh37
NC_000007.12:g.73835808G>A	NCBI36
NG_009078.2:g.14566G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.579G>A MANE Select	ENSP00000289473.4:p.Trp193Ter
ENST00000289473.10:c.579G>A	ENSP00000289473.4:p.Trp193Ter
ENST00000289473.8:c.579G>A	ENSP00000289473.4:p.Trp193Ter
ENST00000398421.6:n.1136G>A
ENST00000443956.7:n.700G>A
ENST00000449343.6:n.1063G>A
ENST00000455062.2:n.726G>A
ENST00000464878.5:c.892G>A
ENST00000486097.1:n.87G>A
NM_000265.5:c.579G>A	NP_000256.4:p.Trp193Ter
XM_005250543.3:c.579G>A	XP_005250600.2:p.Trp193Ter
XM_005250544.3:c.579G>A	XP_005250601.2:p.Trp193Ter
XM_011516498.1:c.579G>A	XP_011514800.1:p.Trp193Ter
XM_011516499.1:c.579G>A	XP_011514801.1:p.Trp193Ter
XM_011516500.1:c.579G>A	XP_011514802.1:p.Trp193Ter
XM_011516501.1:c.186G>A	XP_011514803.1:p.Trp62Ter
XR_242262.3:n.634G>A
XR_927515.1:n.634G>A
NM_000265.6:c.579G>A	NP_000256.4:p.Trp193Ter
NM_000265.7:c.579G>A MANE Select	NP_000256.4:p.Trp193Ter