Canonical Allele Identifier: CA455897958
Gene: NCF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.74203495T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74789151T>A , CM000669.2:g.74789151T>A GRCh38
NC_000007.13:g.74203495T>A , CM000669.1:g.74203495T>A GRCh37
NC_000007.12:g.73841431T>A NCBI36
NG_009078.2:g.20188T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000289473.11:c.1164T>A MANE Select ENSP00000289473.4:p.Ser388=
ENST00000289473.10:c.1164T>A ENSP00000289473.4:p.Ser388=
ENST00000289473.8:c.1164T>A ENSP00000289473.4:p.Ser388=
ENST00000398421.6:n.2191T>A
ENST00000455062.2:n.1273T>A
NM_000265.5:c.1164T>A NP_000256.4:p.Ser388=
XM_005250543.3:c.*85T>A XP_005250600.2:n.*85T>A
XM_011516498.1:c.*38T>A XP_011514800.1:n.*38T>A
XM_011516501.1:c.771T>A XP_011514803.1:p.Ser257=
NM_000265.6:c.1164T>A NP_000256.4:p.Ser388=
NM_000265.7:c.1164T>A MANE Select NP_000256.4:p.Ser388=