Canonical Allele Identifier: CA2683317972
Gene: NCF1 HGNC NCBI

Linked Data

gnomAD v4: 7-74789182-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74789182T>G , CM000669.2:g.74789182T>G GRCh38
NC_000007.13:g.74203526T>G , CM000669.1:g.74203526T>G GRCh37
NC_000007.12:g.73841462T>G NCBI36
NG_009078.2:g.20219T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000289473.11:c.*22T>G MANE Select ENSP00000289473.4:n.*22T>G
ENST00000289473.10:c.*22T>G ENSP00000289473.4:n.*22T>G
ENST00000289473.8:c.*22T>G ENSP00000289473.4:n.*22T>G
ENST00000398421.6:n.2222T>G
ENST00000455062.2:n.1304T>G
NM_000265.5:c.*22T>G NP_000256.4:n.*22T>G
XM_005250543.3:c.*116T>G XP_005250600.2:n.*116T>G
XM_011516498.1:c.*69T>G XP_011514800.1:n.*69T>G
XM_011516501.1:c.*22T>G XP_011514803.1:n.*22T>G
NM_000265.6:c.*22T>G NP_000256.4:n.*22T>G
NM_000265.7:c.*22T>G MANE Select NP_000256.4:n.*22T>G