Canonical Allele Identifier: CA1103162865

Gene: NCF1

Linked Data

• dbSNP Id: rs1796733697
• gnomAD v3: 7-74789212-G-A
• gnomAD v4: 7-74789212-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74789212G>A , CM000669.2:g.74789212G>A	GRCh38
NC_000007.13:g.74203556G>A , CM000669.1:g.74203556G>A	GRCh37
NC_000007.12:g.73841492G>A	NCBI36
NG_009078.2:g.20249G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.*52G>A MANE Select	ENSP00000289473.4:n.*52G>A
ENST00000289473.10:c.*52G>A	ENSP00000289473.4:n.*52G>A
ENST00000289473.8:c.*52G>A	ENSP00000289473.4:n.*52G>A
ENST00000398421.6:n.2252G>A
ENST00000455062.2:n.1334G>A
NM_000265.5:c.*52G>A	NP_000256.4:n.*52G>A
XM_005250543.3:c.*146G>A	XP_005250600.2:n.*146G>A
XM_011516498.1:c.*99G>A	XP_011514800.1:n.*99G>A
XM_011516501.1:c.*52G>A	XP_011514803.1:n.*52G>A
NM_000265.6:c.*52G>A	NP_000256.4:n.*52G>A
NM_000265.7:c.*52G>A MANE Select	NP_000256.4:n.*52G>A