Canonical Allele Identifier: CA367955817
Gene: NCF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74789046G>C , CM000669.2:g.74789046G>C GRCh38
NC_000007.13:g.74203390G>C , CM000669.1:g.74203390G>C GRCh37
NC_000007.12:g.73841326G>C NCBI36
NG_009078.2:g.20083G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000289473.11:c.1059G>C MANE Select ENSP00000289473.4:p.Glu353Asp
ENST00000289473.10:c.1059G>C ENSP00000289473.4:p.Glu353Asp
ENST00000289473.8:c.1059G>C ENSP00000289473.4:p.Glu353Asp
ENST00000398421.6:n.2086G>C
ENST00000455062.2:n.1168G>C
NM_000265.5:c.1059G>C NP_000256.4:p.Glu353Asp
XM_005250543.3:c.1021G>C XP_005250600.2:p.Ala341Pro
XM_011516498.1:c.1058G>C XP_011514800.1:p.Ser353Thr
XM_011516501.1:c.666G>C XP_011514803.1:p.Glu222Asp
NM_000265.6:c.1059G>C NP_000256.4:p.Glu353Asp
NM_000265.7:c.1059G>C MANE Select NP_000256.4:p.Glu353Asp