Canonical Allele Identifier: CA367956122

Gene: NCF1

Linked Data

• MyVariant Identifiers: chr7:g.74203485A>C (hg19) ; chr7:g.74789141A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74789141A>C , CM000669.2:g.74789141A>C	GRCh38
NC_000007.13:g.74203485A>C , CM000669.1:g.74203485A>C	GRCh37
NC_000007.12:g.73841421A>C	NCBI36
NG_009078.2:g.20178A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.1154A>C MANE Select	ENSP00000289473.4:p.Lys385Thr
ENST00000289473.10:c.1154A>C	ENSP00000289473.4:p.Lys385Thr
ENST00000289473.8:c.1154A>C	ENSP00000289473.4:p.Lys385Thr
ENST00000398421.6:n.2181A>C
ENST00000455062.2:n.1263A>C
NM_000265.5:c.1154A>C	NP_000256.4:p.Lys385Thr
XM_005250543.3:c.*75A>C	XP_005250600.2:n.*75A>C
XM_011516498.1:c.*28A>C	XP_011514800.1:n.*28A>C
XM_011516501.1:c.761A>C	XP_011514803.1:p.Lys254Thr
NM_000265.6:c.1154A>C	NP_000256.4:p.Lys385Thr
NM_000265.7:c.1154A>C MANE Select	NP_000256.4:p.Lys385Thr