Canonical Allele Identifier: CA2683317955
Gene: NCF1 HGNC NCBI

Linked Data

gnomAD v4: 7-74789031-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74789031G>A , CM000669.2:g.74789031G>A GRCh38
NC_000007.13:g.74203375G>A , CM000669.1:g.74203375G>A GRCh37
NC_000007.12:g.73841311G>A NCBI36
NG_009078.2:g.20068G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000289473.11:c.1052-8G>A MANE Select ENSP00000289473.4:n.1052-8G>A
ENST00000289473.10:c.1052-8G>A ENSP00000289473.4:n.1052-8G>A
ENST00000289473.8:c.1052-8G>A ENSP00000289473.4:n.1052-8G>A
ENST00000398421.6:n.2079-8G>A
ENST00000455062.2:n.1161-8G>A
NM_000265.5:c.1052-8G>A NP_000256.4:n.1052-8G>A
XM_005250543.3:c.1014-8G>A XP_005250600.2:n.1014-8G>A
XM_011516498.1:c.1051-8G>A XP_011514800.1:n.1051-8G>A
XM_011516501.1:c.659-8G>A XP_011514803.1:n.659-8G>A
NM_000265.6:c.1052-8G>A NP_000256.4:n.1052-8G>A
NM_000265.7:c.1052-8G>A MANE Select NP_000256.4:n.1052-8G>A