Canonical Allele Identifier: CA2683318030
Gene: NCF1 HGNC NCBI

Linked Data

gnomAD v4: 7-74789224-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74789224T>A , CM000669.2:g.74789224T>A GRCh38
NC_000007.13:g.74203568T>A , CM000669.1:g.74203568T>A GRCh37
NC_000007.12:g.73841504T>A NCBI36
NG_009078.2:g.20261T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000289473.11:c.*64T>A MANE Select ENSP00000289473.4:n.*64T>A
ENST00000289473.10:c.*64T>A ENSP00000289473.4:n.*64T>A
ENST00000289473.8:c.*64T>A ENSP00000289473.4:n.*64T>A
ENST00000398421.6:n.2264T>A
ENST00000455062.2:n.1346T>A
NM_000265.5:c.*64T>A NP_000256.4:n.*64T>A
XM_005250543.3:c.*158T>A XP_005250600.2:n.*158T>A
XM_011516498.1:c.*111T>A XP_011514800.1:n.*111T>A
XM_011516501.1:c.*64T>A XP_011514803.1:n.*64T>A
NM_000265.6:c.*64T>A NP_000256.4:n.*64T>A
NM_000265.7:c.*64T>A MANE Select NP_000256.4:n.*64T>A