Canonical Allele Identifier: CA367955940

Gene: NCF1

Linked Data

• MyVariant Identifiers: chr7:g.74203416A>C (hg19) ; chr7:g.74789072A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74789072A>C , CM000669.2:g.74789072A>C	GRCh38
NC_000007.13:g.74203416A>C , CM000669.1:g.74203416A>C	GRCh37
NC_000007.12:g.73841352A>C	NCBI36
NG_009078.2:g.20109A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.1085A>C MANE Select	ENSP00000289473.4:p.Gln362Pro
ENST00000289473.10:c.1085A>C	ENSP00000289473.4:p.Gln362Pro
ENST00000289473.8:c.1085A>C	ENSP00000289473.4:p.Gln362Pro
ENST00000398421.6:n.2112A>C
ENST00000455062.2:n.1194A>C
NM_000265.5:c.1085A>C	NP_000256.4:p.Gln362Pro
XM_005250543.3:c.*6A>C	XP_005250600.2:n.*6A>C
XM_011516498.1:c.1084A>C	XP_011514800.1:p.Ser362Arg
XM_011516501.1:c.692A>C	XP_011514803.1:p.Gln231Pro
NM_000265.6:c.1085A>C	NP_000256.4:p.Gln362Pro
NM_000265.7:c.1085A>C MANE Select	NP_000256.4:p.Gln362Pro