Canonical Allele Identifier: CA4298126

Gene: NCF1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74779414G>A , CM000669.2:g.74779414G>A	GRCh38
NC_000007.13:g.74193760G>A , CM000669.1:g.74193760G>A	GRCh37
NC_000007.12:g.73831696G>A	NCBI36
NG_009078.2:g.10451G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000265.7:c.387G>A MANE Select	NP_000256.4:p.Thr129=
ENST00000289473.11:c.387G>A MANE Select	ENSP00000289473.4:p.Thr129=
NM_000265.5:c.387G>A	NP_000256.4:p.Thr129=
NM_000265.6:c.387G>A	NP_000256.4:p.Thr129=
ENST00000289473.10:c.387G>A	ENSP00000289473.4:p.Thr129=
ENST00000289473.8:c.387G>A	ENSP00000289473.4:p.Thr129=
ENST00000398421.6:n.481G>A
ENST00000433458.5:c.313G>A
ENST00000438106.5:n.315G>A
ENST00000442021.6:c.406G>A
ENST00000443956.7:n.508G>A
ENST00000449343.6:n.408G>A
ENST00000455062.2:n.80-1366G>A
ENST00000464878.5:c.237G>A
XM_005250543.3:c.387G>A	XP_005250600.2:p.Thr129=
XM_005250544.3:c.387G>A	XP_005250601.2:p.Thr129=
XM_011516498.1:c.387G>A	XP_011514800.1:p.Thr129=
XM_011516499.1:c.387G>A	XP_011514801.1:p.Thr129=
XM_011516500.1:c.387G>A	XP_011514802.1:p.Thr129=
XM_011516501.1:c.3-1366G>A	XP_011514803.1:n.3-1366G>A
XR_242262.3:n.442G>A
XR_927515.1:n.442G>A