Canonical Allele Identifier: CA1103162926
Gene: NCF1 HGNC NCBI

Linked Data

gnomAD v3: 7-74789252-G-C
gnomAD v4: 7-74789252-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74789252G>C , CM000669.2:g.74789252G>C GRCh38
NC_000007.13:g.74203596G>C , CM000669.1:g.74203596G>C GRCh37
NC_000007.12:g.73841532G>C NCBI36
NG_009078.2:g.20289G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000289473.11:c.*92G>C MANE Select ENSP00000289473.4:n.*92G>C
ENST00000289473.10:c.*92G>C ENSP00000289473.4:n.*92G>C
ENST00000289473.8:c.*92G>C ENSP00000289473.4:n.*92G>C
ENST00000398421.6:n.2292G>C
ENST00000455062.2:n.1374G>C
NM_000265.5:c.*92G>C NP_000256.4:n.*92G>C
XM_005250543.3:c.*186G>C XP_005250600.2:n.*186G>C
XM_011516498.1:c.*139G>C XP_011514800.1:n.*139G>C
XM_011516501.1:c.*92G>C XP_011514803.1:n.*92G>C
NM_000265.6:c.*92G>C NP_000256.4:n.*92G>C
NM_000265.7:c.*92G>C MANE Select NP_000256.4:n.*92G>C