Canonical Allele Identifier: CA367956161

Gene: NCF1

Linked Data

• gnomAD v4: 7-74789160-A-C
• MyVariant Identifiers: chr7:g.74203504A>C (hg19) ; chr7:g.74789160A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74789160A>C , CM000669.2:g.74789160A>C	GRCh38
NC_000007.13:g.74203504A>C , CM000669.1:g.74203504A>C	GRCh37
NC_000007.12:g.73841440A>C	NCBI36
NG_009078.2:g.20197A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.1173A>C MANE Select	ENSP00000289473.4:p.Ter391Cys
ENST00000289473.10:c.1173A>C	ENSP00000289473.4:p.Ter391Cys
ENST00000289473.8:c.1173A>C	ENSP00000289473.4:p.Ter391Cys
ENST00000398421.6:n.2200A>C
ENST00000455062.2:n.1282A>C
NM_000265.5:c.1173A>C	NP_000256.4:p.Ter391Cys
XM_005250543.3:c.*94A>C	XP_005250600.2:n.*94A>C
XM_011516498.1:c.*47A>C	XP_011514800.1:n.*47A>C
XM_011516501.1:c.780A>C	XP_011514803.1:p.Ter260Cys
NM_000265.6:c.1173A>C	NP_000256.4:p.Ter391Cys
NM_000265.7:c.1173A>C MANE Select	NP_000256.4:p.Ter391Cys