Canonical Allele Identifier: CA455897676

Gene: NCF1

Linked Data

• dbSNP Id: rs1431123484
• gnomAD v2: 7-74203423-G-A
• gnomAD v4: 7-74789079-G-A
• MyVariant Identifiers: chr7:g.74203423G>A (hg19) ; chr7:g.74789079G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74789079G>A , CM000669.2:g.74789079G>A	GRCh38
NC_000007.13:g.74203423G>A , CM000669.1:g.74203423G>A	GRCh37
NC_000007.12:g.73841359G>A	NCBI36
NG_009078.2:g.20116G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.1092G>A MANE Select	ENSP00000289473.4:p.Ala364=
ENST00000289473.10:c.1092G>A	ENSP00000289473.4:p.Ala364=
ENST00000289473.8:c.1092G>A	ENSP00000289473.4:p.Ala364=
ENST00000398421.6:n.2119G>A
ENST00000455062.2:n.1201G>A
NM_000265.5:c.1092G>A	NP_000256.4:p.Ala364=
XM_005250543.3:c.*13G>A	XP_005250600.2:n.*13G>A
XM_011516498.1:c.1091G>A	XP_011514800.1:p.Arg364Gln
XM_011516501.1:c.699G>A	XP_011514803.1:p.Ala233=
NM_000265.6:c.1092G>A	NP_000256.4:p.Ala364=
NM_000265.7:c.1092G>A MANE Select	NP_000256.4:p.Ala364=