Canonical Allele Identifier: CA2201967774
Gene: GFER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985945C= , CM000678.2:g.1985945C= GRCh38
NC_000016.9:g.2035946C= , CM000678.1:g.2035946C= GRCh37
NC_000016.8:g.1975947C= NCBI36
NG_016288.1:g.6797C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.310C= ENSP00000455885.1:p.Arg104=
ENST00000248114.7:c.535C= MANE Select ENSP00000248114.6:p.Arg179=
ENST00000248114.6:c.535C= ENSP00000248114.6:p.Arg179=
ENST00000565658.1:n.692C=
ENST00000567719.1:c.310C= ENSP00000455885.1:p.Arg104=
ENST00000569451.1:c.*8C= ENSP00000456432.1:n.*8C=
NM_005262.2:c.535C= NP_005253.3:p.Arg179=
NM_005262.3:c.535C= MANE Select NP_005253.3:p.Arg179=