Canonical Allele Identifier: CA1103162908
Gene: NCF1 HGNC NCBI

Linked Data

gnomAD v3: 7-74789223-T-G
gnomAD v4: 7-74789223-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74789223T>G , CM000669.2:g.74789223T>G GRCh38
NC_000007.13:g.74203567T>G , CM000669.1:g.74203567T>G GRCh37
NC_000007.12:g.73841503T>G NCBI36
NG_009078.2:g.20260T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000289473.11:c.*63T>G MANE Select ENSP00000289473.4:n.*63T>G
ENST00000289473.10:c.*63T>G ENSP00000289473.4:n.*63T>G
ENST00000289473.8:c.*63T>G ENSP00000289473.4:n.*63T>G
ENST00000398421.6:n.2263T>G
ENST00000455062.2:n.1345T>G
NM_000265.5:c.*63T>G NP_000256.4:n.*63T>G
XM_005250543.3:c.*157T>G XP_005250600.2:n.*157T>G
XM_011516498.1:c.*110T>G XP_011514800.1:n.*110T>G
XM_011516501.1:c.*63T>G XP_011514803.1:n.*63T>G
NM_000265.6:c.*63T>G NP_000256.4:n.*63T>G
NM_000265.7:c.*63T>G MANE Select NP_000256.4:n.*63T>G