Canonical Allele Identifier: CA4298262

Gene: NCF1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74788698C>G , CM000669.2:g.74788698C>G	GRCh38
NC_000007.13:g.74203042C>G , CM000669.1:g.74203042C>G	GRCh37
NC_000007.12:g.73840978C>G	NCBI36
NG_009078.2:g.19735C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000265.7:c.1045C>G MANE Select	NP_000256.4:p.Pro349Ala
ENST00000289473.11:c.1045C>G MANE Select	ENSP00000289473.4:p.Pro349Ala
NM_000265.5:c.1045C>G	NP_000256.4:p.Pro349Ala
NM_000265.6:c.1045C>G	NP_000256.4:p.Pro349Ala
ENST00000289473.10:c.1045C>G	ENSP00000289473.4:p.Pro349Ala
ENST00000289473.8:c.1045C>G	ENSP00000289473.4:p.Pro349Ala
ENST00000398421.6:n.2072C>G
ENST00000455062.2:n.1154C>G
XM_005250543.3:c.1007C>G	XP_005250600.2:p.Pro336Arg
XM_011516498.1:c.1044C>G	XP_011514800.1:p.Ala348=
XM_011516501.1:c.652C>G	XP_011514803.1:p.Pro218Ala