Canonical Allele Identifier: CA2683318115
Gene: NCF1 HGNC NCBI

Linked Data

gnomAD v4: 7-74789332-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74789332A>C , CM000669.2:g.74789332A>C GRCh38
NC_000007.13:g.74203676A>C , CM000669.1:g.74203676A>C GRCh37
NC_000007.12:g.73841612A>C NCBI36
NG_009078.2:g.20369A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000289473.10:c.*172A>C ENSP00000289473.4:n.*172A>C
NM_000265.5:c.*172A>C NP_000256.4:n.*172A>C
XM_005250543.3:c.*266A>C XP_005250600.2:n.*266A>C
XM_011516498.1:c.*219A>C XP_011514800.1:n.*219A>C
XM_011516501.1:c.*172A>C XP_011514803.1:n.*172A>C
NM_000265.6:c.*172A>C NP_000256.4:n.*172A>C