Canonical Allele Identifier: CA2201967721
Gene: GFER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985905C= , CM000678.2:g.1985905C= GRCh38
NC_000016.9:g.2035906C= , CM000678.1:g.2035906C= GRCh37
NC_000016.8:g.1975907C= NCBI36
NG_016288.1:g.6757C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.270C= ENSP00000455885.1:p.Cys90=
ENST00000248114.7:c.495C= MANE Select ENSP00000248114.6:p.Cys165=
ENST00000248114.6:c.495C= ENSP00000248114.6:p.Cys165=
ENST00000565658.1:n.652C=
ENST00000567719.1:c.270C= ENSP00000455885.1:p.Cys90=
ENST00000569451.1:c.298C= ENSP00000456432.1:p.Leu100=
NM_005262.2:c.495C= NP_005253.3:p.Cys165=
NM_005262.3:c.495C= MANE Select NP_005253.3:p.Cys165=