Canonical Allele Identifier: CA367955811

Gene: NCF1

Linked Data

• MyVariant Identifiers: chr7:g.74203389A>C (hg19) ; chr7:g.74789045A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74789045A>C , CM000669.2:g.74789045A>C	GRCh38
NC_000007.13:g.74203389A>C , CM000669.1:g.74203389A>C	GRCh37
NC_000007.12:g.73841325A>C	NCBI36
NG_009078.2:g.20082A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.1058A>C MANE Select	ENSP00000289473.4:p.Glu353Ala
ENST00000289473.10:c.1058A>C	ENSP00000289473.4:p.Glu353Ala
ENST00000289473.8:c.1058A>C	ENSP00000289473.4:p.Glu353Ala
ENST00000398421.6:n.2085A>C
ENST00000455062.2:n.1167A>C
NM_000265.5:c.1058A>C	NP_000256.4:p.Glu353Ala
XM_005250543.3:c.1020A>C	XP_005250600.2:p.Gly340=
XM_011516498.1:c.1057A>C	XP_011514800.1:p.Ser353Arg
XM_011516501.1:c.665A>C	XP_011514803.1:p.Glu222Ala
NM_000265.6:c.1058A>C	NP_000256.4:p.Glu353Ala
NM_000265.7:c.1058A>C MANE Select	NP_000256.4:p.Glu353Ala