Canonical Allele Identifier: CA455894541

Gene: NCF1

Linked Data

• MyVariant Identifiers: chr7:g.74197923C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74783580C>A , CM000669.2:g.74783580C>A	GRCh38
NC_000007.13:g.74197923C>A , CM000669.1:g.74197923C>A	GRCh37
NC_000007.12:g.73835859C>A	NCBI36
NG_009078.2:g.14617C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.630C>A MANE Select	ENSP00000289473.4:p.Leu210=
ENST00000289473.10:c.630C>A	ENSP00000289473.4:p.Leu210=
ENST00000289473.8:c.630C>A	ENSP00000289473.4:p.Leu210=
ENST00000398421.6:n.1187C>A
ENST00000443956.7:n.751C>A
ENST00000455062.2:n.777C>A
ENST00000464878.5:c.943C>A
ENST00000486097.1:n.138C>A
NM_000265.5:c.630C>A	NP_000256.4:p.Leu210=
XM_005250543.3:c.630C>A	XP_005250600.2:p.Leu210=
XM_005250544.3:c.630C>A	XP_005250601.2:p.Leu210=
XM_011516498.1:c.630C>A	XP_011514800.1:p.Leu210=
XM_011516499.1:c.630C>A	XP_011514801.1:p.Leu210=
XM_011516500.1:c.630C>A	XP_011514802.1:p.Leu210=
XM_011516501.1:c.237C>A	XP_011514803.1:p.Leu79=
XR_242262.3:n.685C>A
XR_927515.1:n.685C>A
NM_000265.6:c.630C>A	NP_000256.4:p.Leu210=
NM_000265.7:c.630C>A MANE Select	NP_000256.4:p.Leu210=