Canonical Allele Identifier: CA367956117

Gene: NCF1

Linked Data

• MyVariant Identifiers: chr7:g.74203482G>C (hg19) ; chr7:g.74789138G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74789138G>C , CM000669.2:g.74789138G>C	GRCh38
NC_000007.13:g.74203482G>C , CM000669.1:g.74203482G>C	GRCh37
NC_000007.12:g.73841418G>C	NCBI36
NG_009078.2:g.20175G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.1151G>C MANE Select	ENSP00000289473.4:p.Arg384Pro
ENST00000289473.10:c.1151G>C	ENSP00000289473.4:p.Arg384Pro
ENST00000289473.8:c.1151G>C	ENSP00000289473.4:p.Arg384Pro
ENST00000398421.6:n.2178G>C
ENST00000455062.2:n.1260G>C
NM_000265.5:c.1151G>C	NP_000256.4:p.Arg384Pro
XM_005250543.3:c.*72G>C	XP_005250600.2:n.*72G>C
XM_011516498.1:c.*25G>C	XP_011514800.1:n.*25G>C
XM_011516501.1:c.758G>C	XP_011514803.1:p.Arg253Pro
NM_000265.6:c.1151G>C	NP_000256.4:p.Arg384Pro
NM_000265.7:c.1151G>C MANE Select	NP_000256.4:p.Arg384Pro