Canonical Allele Identifier: CA367956127

Gene: NCF1

Linked Data

• MyVariant Identifiers: chr7:g.74203487C>A (hg19) ; chr7:g.74789143C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74789143C>A , CM000669.2:g.74789143C>A	GRCh38
NC_000007.13:g.74203487C>A , CM000669.1:g.74203487C>A	GRCh37
NC_000007.12:g.73841423C>A	NCBI36
NG_009078.2:g.20180C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.1156C>A MANE Select	ENSP00000289473.4:p.Leu386Met
ENST00000289473.10:c.1156C>A	ENSP00000289473.4:p.Leu386Met
ENST00000289473.8:c.1156C>A	ENSP00000289473.4:p.Leu386Met
ENST00000398421.6:n.2183C>A
ENST00000455062.2:n.1265C>A
NM_000265.5:c.1156C>A	NP_000256.4:p.Leu386Met
XM_005250543.3:c.*77C>A	XP_005250600.2:n.*77C>A
XM_011516498.1:c.*30C>A	XP_011514800.1:n.*30C>A
XM_011516501.1:c.763C>A	XP_011514803.1:p.Leu255Met
NM_000265.6:c.1156C>A	NP_000256.4:p.Leu386Met
NM_000265.7:c.1156C>A MANE Select	NP_000256.4:p.Leu386Met