Canonical Allele Identifier: CA2683317988
Gene: NCF1 HGNC NCBI

Linked Data

gnomAD v4: 7-74789205-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74789205C>A , CM000669.2:g.74789205C>A GRCh38
NC_000007.13:g.74203549C>A , CM000669.1:g.74203549C>A GRCh37
NC_000007.12:g.73841485C>A NCBI36
NG_009078.2:g.20242C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000289473.11:c.*45C>A MANE Select ENSP00000289473.4:n.*45C>A
ENST00000289473.10:c.*45C>A ENSP00000289473.4:n.*45C>A
ENST00000289473.8:c.*45C>A ENSP00000289473.4:n.*45C>A
ENST00000398421.6:n.2245C>A
ENST00000455062.2:n.1327C>A
NM_000265.5:c.*45C>A NP_000256.4:n.*45C>A
XM_005250543.3:c.*139C>A XP_005250600.2:n.*139C>A
XM_011516498.1:c.*92C>A XP_011514800.1:n.*92C>A
XM_011516501.1:c.*45C>A XP_011514803.1:n.*45C>A
NM_000265.6:c.*45C>A NP_000256.4:n.*45C>A
NM_000265.7:c.*45C>A MANE Select NP_000256.4:n.*45C>A