Canonical Allele Identifier: CA367956083

Gene: NCF1

Linked Data

• MyVariant Identifiers: chr7:g.74203468C>A (hg19) ; chr7:g.74789124C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74789124C>A , CM000669.2:g.74789124C>A	GRCh38
NC_000007.13:g.74203468C>A , CM000669.1:g.74203468C>A	GRCh37
NC_000007.12:g.73841404C>A	NCBI36
NG_009078.2:g.20161C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.1137C>A MANE Select	ENSP00000289473.4:p.Ser379Arg
ENST00000289473.10:c.1137C>A	ENSP00000289473.4:p.Ser379Arg
ENST00000289473.8:c.1137C>A	ENSP00000289473.4:p.Ser379Arg
ENST00000398421.6:n.2164C>A
ENST00000455062.2:n.1246C>A
NM_000265.5:c.1137C>A	NP_000256.4:p.Ser379Arg
XM_005250543.3:c.*58C>A	XP_005250600.2:n.*58C>A
XM_011516498.1:c.*11C>A	XP_011514800.1:n.*11C>A
XM_011516501.1:c.744C>A	XP_011514803.1:p.Ser248Arg
NM_000265.6:c.1137C>A	NP_000256.4:p.Ser379Arg
NM_000265.7:c.1137C>A MANE Select	NP_000256.4:p.Ser379Arg