Canonical Allele Identifier: CA367953196

Gene: NCF1

Linked Data

• MyVariant Identifiers: chr7:g.74197877T>A (hg19) ; chr7:g.74783534T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74783534T>A , CM000669.2:g.74783534T>A	GRCh38
NC_000007.13:g.74197877T>A , CM000669.1:g.74197877T>A	GRCh37
NC_000007.12:g.73835813T>A	NCBI36
NG_009078.2:g.14571T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.584T>A MANE Select	ENSP00000289473.4:p.Phe195Tyr
ENST00000289473.10:c.584T>A	ENSP00000289473.4:p.Phe195Tyr
ENST00000289473.8:c.584T>A	ENSP00000289473.4:p.Phe195Tyr
ENST00000398421.6:n.1141T>A
ENST00000443956.7:n.705T>A
ENST00000449343.6:n.1068T>A
ENST00000455062.2:n.731T>A
ENST00000464878.5:c.897T>A
ENST00000486097.1:n.92T>A
NM_000265.5:c.584T>A	NP_000256.4:p.Phe195Tyr
XM_005250543.3:c.584T>A	XP_005250600.2:p.Phe195Tyr
XM_005250544.3:c.584T>A	XP_005250601.2:p.Phe195Tyr
XM_011516498.1:c.584T>A	XP_011514800.1:p.Phe195Tyr
XM_011516499.1:c.584T>A	XP_011514801.1:p.Phe195Tyr
XM_011516500.1:c.584T>A	XP_011514802.1:p.Phe195Tyr
XM_011516501.1:c.191T>A	XP_011514803.1:p.Phe64Tyr
XR_242262.3:n.639T>A
XR_927515.1:n.639T>A
NM_000265.6:c.584T>A	NP_000256.4:p.Phe195Tyr
NM_000265.7:c.584T>A MANE Select	NP_000256.4:p.Phe195Tyr