Canonical Allele Identifier: CA2683318108
Gene: NCF1 HGNC NCBI

Linked Data

gnomAD v4: 7-74789305-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74789305C>T , CM000669.2:g.74789305C>T GRCh38
NC_000007.13:g.74203649C>T , CM000669.1:g.74203649C>T GRCh37
NC_000007.12:g.73841585C>T NCBI36
NG_009078.2:g.20342C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000289473.11:c.*145C>T MANE Select ENSP00000289473.4:n.*145C>T
ENST00000289473.10:c.*145C>T ENSP00000289473.4:n.*145C>T
ENST00000289473.8:c.*145C>T ENSP00000289473.4:n.*145C>T
ENST00000398421.6:n.2345C>T
ENST00000455062.2:n.1427C>T
NM_000265.5:c.*145C>T NP_000256.4:n.*145C>T
XM_005250543.3:c.*239C>T XP_005250600.2:n.*239C>T
XM_011516498.1:c.*192C>T XP_011514800.1:n.*192C>T
XM_011516501.1:c.*145C>T XP_011514803.1:n.*145C>T
NM_000265.6:c.*145C>T NP_000256.4:n.*145C>T
NM_000265.7:c.*145C>T MANE Select NP_000256.4:n.*145C>T