Canonical Allele Identifier: CA2683317965
Gene: NCF1 HGNC NCBI

Linked Data

gnomAD v4: 7-74789166-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74789166G>C , CM000669.2:g.74789166G>C GRCh38
NC_000007.13:g.74203510G>C , CM000669.1:g.74203510G>C GRCh37
NC_000007.12:g.73841446G>C NCBI36
NG_009078.2:g.20203G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000289473.11:c.*6G>C MANE Select ENSP00000289473.4:n.*6G>C
ENST00000289473.10:c.*6G>C ENSP00000289473.4:n.*6G>C
ENST00000289473.8:c.*6G>C ENSP00000289473.4:n.*6G>C
ENST00000398421.6:n.2206G>C
ENST00000455062.2:n.1288G>C
NM_000265.5:c.*6G>C NP_000256.4:n.*6G>C
XM_005250543.3:c.*100G>C XP_005250600.2:n.*100G>C
XM_011516498.1:c.*53G>C XP_011514800.1:n.*53G>C
XM_011516501.1:c.*6G>C XP_011514803.1:n.*6G>C
NM_000265.6:c.*6G>C NP_000256.4:n.*6G>C
NM_000265.7:c.*6G>C MANE Select NP_000256.4:n.*6G>C