Canonical Allele Identifier: CA367953477

Gene: NCF1

Linked Data

• dbSNP Id: rs1554414128
• gnomAD v2: 7-74197938-T-A
• gnomAD v4: 7-74783595-T-A
• MyVariant Identifiers: chr7:g.74197938T>A (hg19) ; chr7:g.74783595T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74783595T>A , CM000669.2:g.74783595T>A	GRCh38
NC_000007.13:g.74197938T>A , CM000669.1:g.74197938T>A	GRCh37
NC_000007.12:g.73835874T>A	NCBI36
NG_009078.2:g.14632T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.645T>A MANE Select	ENSP00000289473.4:p.Ser215Arg
ENST00000289473.10:c.645T>A	ENSP00000289473.4:p.Ser215Arg
ENST00000289473.8:c.645T>A	ENSP00000289473.4:p.Ser215Arg
ENST00000398421.6:n.1202T>A
ENST00000443956.7:n.766T>A
ENST00000455062.2:n.792T>A
ENST00000486097.1:n.153T>A
NM_000265.5:c.645T>A	NP_000256.4:p.Ser215Arg
XM_005250543.3:c.645T>A	XP_005250600.2:p.Ser215Arg
XM_005250544.3:c.645T>A	XP_005250601.2:p.Ser215Arg
XM_011516498.1:c.645T>A	XP_011514800.1:p.Ser215Arg
XM_011516499.1:c.645T>A	XP_011514801.1:p.Ser215Arg
XM_011516500.1:c.645T>A	XP_011514802.1:p.Ser215Arg
XM_011516501.1:c.252T>A	XP_011514803.1:p.Ser84Arg
XR_242262.3:n.700T>A
XR_927515.1:n.700T>A
NM_000265.6:c.645T>A	NP_000256.4:p.Ser215Arg
NM_000265.7:c.645T>A MANE Select	NP_000256.4:p.Ser215Arg