Canonical Allele Identifier: CA842143333

Gene: NCF1

Linked Data

• dbSNP Id: rs1198568286
• gnomAD v3: 7-74789301-G-A
• gnomAD v4: 7-74789301-G-A
• MyVariant Identifiers: chr7:g.74789301G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74789301G>A , CM000669.2:g.74789301G>A	GRCh38
NC_000007.13:g.74203645G>A , CM000669.1:g.74203645G>A	GRCh37
NC_000007.12:g.73841581G>A	NCBI36
NG_009078.2:g.20338G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.*141G>A MANE Select	ENSP00000289473.4:n.*141G>A
ENST00000289473.10:c.*141G>A	ENSP00000289473.4:n.*141G>A
ENST00000289473.8:c.*141G>A	ENSP00000289473.4:n.*141G>A
ENST00000398421.6:n.2341G>A
ENST00000455062.2:n.1423G>A
NM_000265.5:c.*141G>A	NP_000256.4:n.*141G>A
XM_005250543.3:c.*235G>A	XP_005250600.2:n.*235G>A
XM_011516498.1:c.*188G>A	XP_011514800.1:n.*188G>A
XM_011516501.1:c.*141G>A	XP_011514803.1:n.*141G>A
NM_000265.6:c.*141G>A	NP_000256.4:n.*141G>A
NM_000265.7:c.*141G>A MANE Select	NP_000256.4:n.*141G>A