Canonical Allele Identifier: CA2683318060
Gene: NCF1 HGNC NCBI

Linked Data

gnomAD v4: 7-74789235-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74789235T>C , CM000669.2:g.74789235T>C GRCh38
NC_000007.13:g.74203579T>C , CM000669.1:g.74203579T>C GRCh37
NC_000007.12:g.73841515T>C NCBI36
NG_009078.2:g.20272T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000289473.11:c.*75T>C MANE Select ENSP00000289473.4:n.*75T>C
ENST00000289473.10:c.*75T>C ENSP00000289473.4:n.*75T>C
ENST00000289473.8:c.*75T>C ENSP00000289473.4:n.*75T>C
ENST00000398421.6:n.2275T>C
ENST00000455062.2:n.1357T>C
NM_000265.5:c.*75T>C NP_000256.4:n.*75T>C
XM_005250543.3:c.*169T>C XP_005250600.2:n.*169T>C
XM_011516498.1:c.*122T>C XP_011514800.1:n.*122T>C
XM_011516501.1:c.*75T>C XP_011514803.1:n.*75T>C
NM_000265.6:c.*75T>C NP_000256.4:n.*75T>C
NM_000265.7:c.*75T>C MANE Select NP_000256.4:n.*75T>C