Canonical Allele Identifier: CA2683318098

Gene: NCF1

Linked Data

• gnomAD v4: 7-74789289-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74789289C>A , CM000669.2:g.74789289C>A	GRCh38
NC_000007.13:g.74203633C>A , CM000669.1:g.74203633C>A	GRCh37
NC_000007.12:g.73841569C>A	NCBI36
NG_009078.2:g.20326C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.*129C>A MANE Select	ENSP00000289473.4:n.*129C>A
ENST00000289473.10:c.*129C>A	ENSP00000289473.4:n.*129C>A
ENST00000289473.8:c.*129C>A	ENSP00000289473.4:n.*129C>A
ENST00000398421.6:n.2329C>A
ENST00000455062.2:n.1411C>A
NM_000265.5:c.*129C>A	NP_000256.4:n.*129C>A
XM_005250543.3:c.*223C>A	XP_005250600.2:n.*223C>A
XM_011516498.1:c.*176C>A	XP_011514800.1:n.*176C>A
XM_011516501.1:c.*129C>A	XP_011514803.1:n.*129C>A
NM_000265.6:c.*129C>A	NP_000256.4:n.*129C>A
NM_000265.7:c.*129C>A MANE Select	NP_000256.4:n.*129C>A