Canonical Allele Identifier: CA390244424
Community Standard Title: NM_001371533.1(FUT8):c.943C>T (p.Arg315Ter)
Gene: FUT8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.65721882C>T , CM000676.2:g.65721882C>T GRCh38
NC_000014.8:g.66188600C>T , CM000676.1:g.66188600C>T GRCh37
NC_000014.7:g.65258353C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001371533.1:c.943C>T MANE Select NP_001358462.1:p.Arg315Ter
ENST00000673929.1:c.943C>T MANE Select ENSP00000501213.1:p.Arg315Ter
NM_001371534.1:c.943C>T NP_001358463.1:p.Arg315Ter
NM_001371536.1:c.1045C>T NP_001358465.1:p.Arg349Ter
NM_004480.4:c.454C>T NP_004471.4:p.Arg152Ter
NM_178155.2:c.943C>T NP_835368.1:p.Arg315Ter
NM_178155.3:c.943C>T NP_835368.1:p.Arg315Ter
NM_178156.2:c.943C>T NP_835369.1:p.Arg315Ter
NR_038167.1:n.2563-11349C>T
NR_038170.1:n.1753C>T
ENST00000342677.10:c.836-11349C>T ENSP00000345865.6:n.836-11349C>T
ENST00000358307.6:c.556C>T ENSP00000351057.2:p.Arg186Ter
ENST00000360689.9:c.943C>T ENSP00000353910.5:p.Arg315Ter
ENST00000394586.6:c.943C>T ENSP00000378087.2:p.Arg315Ter
ENST00000557164.5:c.454C>T ENSP00000452433.1:p.Arg152Ter
ENST00000557536.5:n.532C>T
ENST00000674118.1:c.943C>T ENSP00000501008.1:p.Arg315Ter
XM_011536613.1:c.943C>T XP_011534915.1:p.Arg315Ter
XM_011536614.1:c.250C>T XP_011534916.1:p.Arg84Ter
XM_011536614.3:c.250C>T XP_011534916.1:p.Arg84Ter
XM_017021136.1:c.1045C>T XP_016876625.1:p.Arg349Ter
XM_017021137.1:c.1045C>T XP_016876626.1:p.Arg349Ter
XM_017021138.1:c.1045C>T XP_016876627.1:p.Arg349Ter
XM_017021139.1:c.1045C>T XP_016876628.1:p.Arg349Ter
XM_017021140.1:c.856C>T XP_016876629.1:p.Arg286Ter