Canonical Allele Identifier: CA367956138

Gene: NCF1

Linked Data

• MyVariant Identifiers: chr7:g.74203493T>A (hg19) ; chr7:g.74789149T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74789149T>A , CM000669.2:g.74789149T>A	GRCh38
NC_000007.13:g.74203493T>A , CM000669.1:g.74203493T>A	GRCh37
NC_000007.12:g.73841429T>A	NCBI36
NG_009078.2:g.20186T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.1162T>A MANE Select	ENSP00000289473.4:p.Ser388Thr
ENST00000289473.10:c.1162T>A	ENSP00000289473.4:p.Ser388Thr
ENST00000289473.8:c.1162T>A	ENSP00000289473.4:p.Ser388Thr
ENST00000398421.6:n.2189T>A
ENST00000455062.2:n.1271T>A
NM_000265.5:c.1162T>A	NP_000256.4:p.Ser388Thr
XM_005250543.3:c.*83T>A	XP_005250600.2:n.*83T>A
XM_011516498.1:c.*36T>A	XP_011514800.1:n.*36T>A
XM_011516501.1:c.769T>A	XP_011514803.1:p.Ser257Thr
NM_000265.6:c.1162T>A	NP_000256.4:p.Ser388Thr
NM_000265.7:c.1162T>A MANE Select	NP_000256.4:p.Ser388Thr