Canonical Allele Identifier: CA4298166
Community Standard Title: NM_000265.7(NCF1):c.526G>T (p.Ala176Ser)
Gene: NCF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74783013G>T , CM000669.2:g.74783013G>T GRCh38
NC_000007.13:g.74197356G>T , CM000669.1:g.74197356G>T GRCh37
NC_000007.12:g.73835292G>T NCBI36
NG_009078.2:g.14050G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000265.7:c.526G>T MANE Select NP_000256.4:p.Ala176Ser
ENST00000289473.11:c.526G>T MANE Select ENSP00000289473.4:p.Ala176Ser
NM_000265.5:c.526G>T NP_000256.4:p.Ala176Ser
NM_000265.6:c.526G>T NP_000256.4:p.Ala176Ser
ENST00000289473.10:c.526G>T ENSP00000289473.4:p.Ala176Ser
ENST00000289473.8:c.526G>T ENSP00000289473.4:p.Ala176Ser
ENST00000398421.6:n.620G>T
ENST00000443956.7:n.647G>T
ENST00000449343.6:n.547G>T
ENST00000455062.2:n.210G>T
ENST00000464878.5:c.376G>T
ENST00000488197.1:n.515G>T
XM_005250543.3:c.526G>T XP_005250600.2:p.Ala176Ser
XM_005250544.3:c.526G>T XP_005250601.2:p.Ala176Ser
XM_011516498.1:c.526G>T XP_011514800.1:p.Ala176Ser
XM_011516499.1:c.526G>T XP_011514801.1:p.Ala176Ser
XM_011516500.1:c.526G>T XP_011514802.1:p.Ala176Ser
XM_011516501.1:c.133G>T XP_011514803.1:p.Ala45Ser
XR_242262.3:n.581G>T
XR_927515.1:n.581G>T