Canonical Allele Identifier: CA367953478

Gene: NCF1

Linked Data

• MyVariant Identifiers: chr7:g.74197938T>G (hg19) ; chr7:g.74783595T>G (hg38)

Genomic Alleles

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

Transcript Alleles

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