Canonical Allele Identifier: CA2683318118
Gene: NCF1 HGNC NCBI

Linked Data

gnomAD v4: 7-74789341-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74789341G>C , CM000669.2:g.74789341G>C GRCh38
NC_000007.13:g.74203685G>C , CM000669.1:g.74203685G>C GRCh37
NC_000007.12:g.73841621G>C NCBI36
NG_009078.2:g.20378G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000289473.10:c.*181G>C ENSP00000289473.4:n.*181G>C
NM_000265.5:c.*181G>C NP_000256.4:n.*181G>C
XM_005250543.3:c.*275G>C XP_005250600.2:n.*275G>C
XM_011516498.1:c.*228G>C XP_011514800.1:n.*228G>C
XM_011516501.1:c.*181G>C XP_011514803.1:n.*181G>C
NM_000265.6:c.*181G>C NP_000256.4:n.*181G>C