Canonical Allele Identifier: CA1103162827
Gene: NCF1 HGNC NCBI

Linked Data

gnomAD v3: 7-74789207-T-G
gnomAD v4: 7-74789207-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74789207T>G , CM000669.2:g.74789207T>G GRCh38
NC_000007.13:g.74203551T>G , CM000669.1:g.74203551T>G GRCh37
NC_000007.12:g.73841487T>G NCBI36
NG_009078.2:g.20244T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000289473.11:c.*47T>G MANE Select ENSP00000289473.4:n.*47T>G
ENST00000289473.10:c.*47T>G ENSP00000289473.4:n.*47T>G
ENST00000289473.8:c.*47T>G ENSP00000289473.4:n.*47T>G
ENST00000398421.6:n.2247T>G
ENST00000455062.2:n.1329T>G
NM_000265.5:c.*47T>G NP_000256.4:n.*47T>G
XM_005250543.3:c.*141T>G XP_005250600.2:n.*141T>G
XM_011516498.1:c.*94T>G XP_011514800.1:n.*94T>G
XM_011516501.1:c.*47T>G XP_011514803.1:n.*47T>G
NM_000265.6:c.*47T>G NP_000256.4:n.*47T>G
NM_000265.7:c.*47T>G MANE Select NP_000256.4:n.*47T>G