Canonical Allele Identifier: CA2683317968
Gene: NCF1 HGNC NCBI

Linked Data

gnomAD v4: 7-74789176-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74789176C>T , CM000669.2:g.74789176C>T GRCh38
NC_000007.13:g.74203520C>T , CM000669.1:g.74203520C>T GRCh37
NC_000007.12:g.73841456C>T NCBI36
NG_009078.2:g.20213C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000289473.11:c.*16C>T MANE Select ENSP00000289473.4:n.*16C>T
ENST00000289473.10:c.*16C>T ENSP00000289473.4:n.*16C>T
ENST00000289473.8:c.*16C>T ENSP00000289473.4:n.*16C>T
ENST00000398421.6:n.2216C>T
ENST00000455062.2:n.1298C>T
NM_000265.5:c.*16C>T NP_000256.4:n.*16C>T
XM_005250543.3:c.*110C>T XP_005250600.2:n.*110C>T
XM_011516498.1:c.*63C>T XP_011514800.1:n.*63C>T
XM_011516501.1:c.*16C>T XP_011514803.1:n.*16C>T
NM_000265.6:c.*16C>T NP_000256.4:n.*16C>T
NM_000265.7:c.*16C>T MANE Select NP_000256.4:n.*16C>T