Canonical Allele Identifier: CA455897948

Gene: NCF1

Linked Data

• MyVariant Identifiers: chr7:g.74203492G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74789148G>C , CM000669.2:g.74789148G>C	GRCh38
NC_000007.13:g.74203492G>C , CM000669.1:g.74203492G>C	GRCh37
NC_000007.12:g.73841428G>C	NCBI36
NG_009078.2:g.20185G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.1161G>C MANE Select	ENSP00000289473.4:p.Ala387=
ENST00000289473.10:c.1161G>C	ENSP00000289473.4:p.Ala387=
ENST00000289473.8:c.1161G>C	ENSP00000289473.4:p.Ala387=
ENST00000398421.6:n.2188G>C
ENST00000455062.2:n.1270G>C
NM_000265.5:c.1161G>C	NP_000256.4:p.Ala387=
XM_005250543.3:c.*82G>C	XP_005250600.2:n.*82G>C
XM_011516498.1:c.*35G>C	XP_011514800.1:n.*35G>C
XM_011516501.1:c.768G>C	XP_011514803.1:p.Ala256=
NM_000265.6:c.1161G>C	NP_000256.4:p.Ala387=
NM_000265.7:c.1161G>C MANE Select	NP_000256.4:p.Ala387=