Canonical Allele Identifier: CA2201967737
Gene: GFER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985922G= , CM000678.2:g.1985922G= GRCh38
NC_000016.9:g.2035923G= , CM000678.1:g.2035923G= GRCh37
NC_000016.8:g.1975924G= NCBI36
NG_016288.1:g.6774G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.287G= ENSP00000455885.1:p.Cys96=
ENST00000248114.7:c.512G= MANE Select ENSP00000248114.6:p.Cys171=
ENST00000248114.6:c.512G= ENSP00000248114.6:p.Cys171=
ENST00000565658.1:n.669G=
ENST00000567719.1:c.287G= ENSP00000455885.1:p.Cys96=
ENST00000569451.1:c.315G= ENSP00000456432.1:p.Val105=
NM_005262.2:c.512G= NP_005253.3:p.Cys171=
NM_005262.3:c.512G= MANE Select NP_005253.3:p.Cys171=