Canonical Allele Identifier: CA4298052

Gene: NCF1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74779135C>T , CM000669.2:g.74779135C>T	GRCh38
NC_000007.13:g.74193481C>T , CM000669.1:g.74193481C>T	GRCh37
NC_000007.12:g.73831417C>T	NCBI36
NG_009078.2:g.10172C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000265.7:c.207C>T MANE Select	NP_000256.4:p.Asn69=
ENST00000289473.11:c.207C>T MANE Select	ENSP00000289473.4:p.Asn69=
NM_000265.5:c.207C>T	NP_000256.4:p.Asn69=
NM_000265.6:c.207C>T	NP_000256.4:p.Asn69=
ENST00000289473.10:c.207C>T	ENSP00000289473.4:p.Asn69=
ENST00000289473.8:c.207C>T	ENSP00000289473.4:p.Asn69=
ENST00000398421.6:n.301C>T
ENST00000433458.5:c.133C>T
ENST00000438106.5:n.135C>T
ENST00000442021.6:c.226C>T
ENST00000443956.7:n.328C>T
ENST00000449343.6:n.228C>T
ENST00000455062.2:n.80-1645C>T
ENST00000464878.5:c.80-122C>T
XM_005250543.3:c.207C>T	XP_005250600.2:p.Asn69=
XM_005250544.3:c.207C>T	XP_005250601.2:p.Asn69=
XM_011516498.1:c.207C>T	XP_011514800.1:p.Asn69=
XM_011516499.1:c.207C>T	XP_011514801.1:p.Asn69=
XM_011516500.1:c.207C>T	XP_011514802.1:p.Asn69=
XM_011516501.1:c.3-1645C>T	XP_011514803.1:n.3-1645C>T
XR_242262.3:n.262C>T
XR_927515.1:n.262C>T