Canonical Allele Identifier: CA2600072459

Gene: NCF1

Linked Data

• gnomAD v3: 7-74789012-T-G
• gnomAD v4: 7-74789012-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74789012T>G , CM000669.2:g.74789012T>G	GRCh38
NC_000007.13:g.74203356T>G , CM000669.1:g.74203356T>G	GRCh37
NC_000007.12:g.73841292T>G	NCBI36
NG_009078.2:g.20049T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.1052-27T>G MANE Select	ENSP00000289473.4:n.1052-27T>G
ENST00000289473.10:c.1052-27T>G	ENSP00000289473.4:n.1052-27T>G
ENST00000289473.8:c.1052-27T>G	ENSP00000289473.4:n.1052-27T>G
ENST00000398421.6:n.2079-27T>G
ENST00000455062.2:n.1161-27T>G
NM_000265.5:c.1052-27T>G	NP_000256.4:n.1052-27T>G
XM_005250543.3:c.1014-27T>G	XP_005250600.2:n.1014-27T>G
XM_011516498.1:c.1051-27T>G	XP_011514800.1:n.1051-27T>G
XM_011516501.1:c.659-27T>G	XP_011514803.1:n.659-27T>G
NM_000265.6:c.1052-27T>G	NP_000256.4:n.1052-27T>G
NM_000265.7:c.1052-27T>G MANE Select	NP_000256.4:n.1052-27T>G