Canonical Allele Identifier: CA1103162871
Gene: NCF1 HGNC NCBI

Linked Data

dbSNP Id: rs1796733846
gnomAD v3: 7-74789216-A-G
gnomAD v4: 7-74789216-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74789216A>G , CM000669.2:g.74789216A>G GRCh38
NC_000007.13:g.74203560A>G , CM000669.1:g.74203560A>G GRCh37
NC_000007.12:g.73841496A>G NCBI36
NG_009078.2:g.20253A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000289473.11:c.*56A>G MANE Select ENSP00000289473.4:n.*56A>G
ENST00000289473.10:c.*56A>G ENSP00000289473.4:n.*56A>G
ENST00000289473.8:c.*56A>G ENSP00000289473.4:n.*56A>G
ENST00000398421.6:n.2256A>G
ENST00000455062.2:n.1338A>G
NM_000265.5:c.*56A>G NP_000256.4:n.*56A>G
XM_005250543.3:c.*150A>G XP_005250600.2:n.*150A>G
XM_011516498.1:c.*103A>G XP_011514800.1:n.*103A>G
XM_011516501.1:c.*56A>G XP_011514803.1:n.*56A>G
NM_000265.6:c.*56A>G NP_000256.4:n.*56A>G
NM_000265.7:c.*56A>G MANE Select NP_000256.4:n.*56A>G