Canonical Allele Identifier: CA2683317978
Gene: NCF1 HGNC NCBI

Linked Data

gnomAD v4: 7-74789193-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74789193C>G , CM000669.2:g.74789193C>G GRCh38
NC_000007.13:g.74203537C>G , CM000669.1:g.74203537C>G GRCh37
NC_000007.12:g.73841473C>G NCBI36
NG_009078.2:g.20230C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000289473.11:c.*33C>G MANE Select ENSP00000289473.4:n.*33C>G
ENST00000289473.10:c.*33C>G ENSP00000289473.4:n.*33C>G
ENST00000289473.8:c.*33C>G ENSP00000289473.4:n.*33C>G
ENST00000398421.6:n.2233C>G
ENST00000455062.2:n.1315C>G
NM_000265.5:c.*33C>G NP_000256.4:n.*33C>G
XM_005250543.3:c.*127C>G XP_005250600.2:n.*127C>G
XM_011516498.1:c.*80C>G XP_011514800.1:n.*80C>G
XM_011516501.1:c.*33C>G XP_011514803.1:n.*33C>G
NM_000265.6:c.*33C>G NP_000256.4:n.*33C>G
NM_000265.7:c.*33C>G MANE Select NP_000256.4:n.*33C>G