Canonical Allele Identifier: CA2683318084
Gene: NCF1 HGNC NCBI

Linked Data

gnomAD v4: 7-74789247-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74789247G>A , CM000669.2:g.74789247G>A GRCh38
NC_000007.13:g.74203591G>A , CM000669.1:g.74203591G>A GRCh37
NC_000007.12:g.73841527G>A NCBI36
NG_009078.2:g.20284G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000289473.11:c.*87G>A MANE Select ENSP00000289473.4:n.*87G>A
ENST00000289473.10:c.*87G>A ENSP00000289473.4:n.*87G>A
ENST00000289473.8:c.*87G>A ENSP00000289473.4:n.*87G>A
ENST00000398421.6:n.2287G>A
ENST00000455062.2:n.1369G>A
NM_000265.5:c.*87G>A NP_000256.4:n.*87G>A
XM_005250543.3:c.*181G>A XP_005250600.2:n.*181G>A
XM_011516498.1:c.*134G>A XP_011514800.1:n.*134G>A
XM_011516501.1:c.*87G>A XP_011514803.1:n.*87G>A
NM_000265.6:c.*87G>A NP_000256.4:n.*87G>A
NM_000265.7:c.*87G>A MANE Select NP_000256.4:n.*87G>A