Canonical Allele Identifier: CA2201967828
Gene: GFER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985991G= , CM000678.2:g.1985991G= GRCh38
NC_000016.9:g.2035992G= , CM000678.1:g.2035992G= GRCh37
NC_000016.8:g.1975993G= NCBI36
NG_016288.1:g.6843G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.356G= ENSP00000455885.1:p.Arg119=
ENST00000248114.7:c.581G= MANE Select ENSP00000248114.6:p.Arg194=
ENST00000248114.6:c.581G= ENSP00000248114.6:p.Arg194=
ENST00000565658.1:n.738G=
ENST00000567719.1:c.356G= ENSP00000455885.1:p.Arg119=
ENST00000569451.1:c.*54G= ENSP00000456432.1:n.*54G=
NM_005262.2:c.581G= NP_005253.3:p.Arg194=
NM_005262.3:c.581G= MANE Select NP_005253.3:p.Arg194=