Canonical Allele Identifier: CA455897894
Gene: NCF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.74203477C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74789133C>G , CM000669.2:g.74789133C>G GRCh38
NC_000007.13:g.74203477C>G , CM000669.1:g.74203477C>G GRCh37
NC_000007.12:g.73841413C>G NCBI36
NG_009078.2:g.20170C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000289473.11:c.1146C>G MANE Select ENSP00000289473.4:p.Thr382=
ENST00000289473.10:c.1146C>G ENSP00000289473.4:p.Thr382=
ENST00000289473.8:c.1146C>G ENSP00000289473.4:p.Thr382=
ENST00000398421.6:n.2173C>G
ENST00000455062.2:n.1255C>G
NM_000265.5:c.1146C>G NP_000256.4:p.Thr382=
XM_005250543.3:c.*67C>G XP_005250600.2:n.*67C>G
XM_011516498.1:c.*20C>G XP_011514800.1:n.*20C>G
XM_011516501.1:c.753C>G XP_011514803.1:p.Thr251=
NM_000265.6:c.1146C>G NP_000256.4:p.Thr382=
NM_000265.7:c.1146C>G MANE Select NP_000256.4:p.Thr382=