Canonical Allele Identifier: CA367953349

Gene: NCF1

Linked Data

• MyVariant Identifiers: chr7:g.74197906A>G (hg19) ; chr7:g.74783563A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74783563A>G , CM000669.2:g.74783563A>G	GRCh38
NC_000007.13:g.74197906A>G , CM000669.1:g.74197906A>G	GRCh37
NC_000007.12:g.73835842A>G	NCBI36
NG_009078.2:g.14600A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.613A>G MANE Select	ENSP00000289473.4:p.Ile205Val
ENST00000289473.10:c.613A>G	ENSP00000289473.4:p.Ile205Val
ENST00000289473.8:c.613A>G	ENSP00000289473.4:p.Ile205Val
ENST00000398421.6:n.1170A>G
ENST00000443956.7:n.734A>G
ENST00000455062.2:n.760A>G
ENST00000464878.5:c.926A>G
ENST00000486097.1:n.121A>G
NM_000265.5:c.613A>G	NP_000256.4:p.Ile205Val
XM_005250543.3:c.613A>G	XP_005250600.2:p.Ile205Val
XM_005250544.3:c.613A>G	XP_005250601.2:p.Ile205Val
XM_011516498.1:c.613A>G	XP_011514800.1:p.Ile205Val
XM_011516499.1:c.613A>G	XP_011514801.1:p.Ile205Val
XM_011516500.1:c.613A>G	XP_011514802.1:p.Ile205Val
XM_011516501.1:c.220A>G	XP_011514803.1:p.Ile74Val
XR_242262.3:n.668A>G
XR_927515.1:n.668A>G
NM_000265.6:c.613A>G	NP_000256.4:p.Ile205Val
NM_000265.7:c.613A>G MANE Select	NP_000256.4:p.Ile205Val