Canonical Allele Identifier: CA367955322

Gene: NCF1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74788608C>T , CM000669.2:g.74788608C>T	GRCh38
NC_000007.13:g.74202952C>T , CM000669.1:g.74202952C>T	GRCh37
NC_000007.12:g.73840888C>T	NCBI36
NG_009078.2:g.19645C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000265.7:c.955C>T MANE Select	NP_000256.4:p.Leu319Phe
ENST00000289473.11:c.955C>T MANE Select	ENSP00000289473.4:p.Leu319Phe
NM_000265.5:c.955C>T	NP_000256.4:p.Leu319Phe
NM_000265.6:c.955C>T	NP_000256.4:p.Leu319Phe
ENST00000289473.10:c.955C>T	ENSP00000289473.4:p.Leu319Phe
ENST00000289473.8:c.955C>T	ENSP00000289473.4:p.Leu319Phe
ENST00000398421.6:n.1982C>T
ENST00000455062.2:n.1064C>T
XM_005250543.3:c.917C>T	XP_005250600.2:p.Pro306Leu
XM_011516498.1:c.954C>T	XP_011514800.1:p.Ala318=
XM_011516501.1:c.562C>T	XP_011514803.1:p.Leu188Phe