Canonical Allele Identifier: CA2201967719
Gene: GFER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985903T= , CM000678.2:g.1985903T= GRCh38
NC_000016.9:g.2035904T= , CM000678.1:g.2035904T= GRCh37
NC_000016.8:g.1975905T= NCBI36
NG_016288.1:g.6755T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.268T= ENSP00000455885.1:p.Cys90=
ENST00000248114.7:c.493T= MANE Select ENSP00000248114.6:p.Cys165=
ENST00000248114.6:c.493T= ENSP00000248114.6:p.Cys165=
ENST00000565658.1:n.650T=
ENST00000567719.1:c.268T= ENSP00000455885.1:p.Cys90=
ENST00000569451.1:c.296T= ENSP00000456432.1:p.Met99=
NM_005262.2:c.493T= NP_005253.3:p.Cys165=
NM_005262.3:c.493T= MANE Select NP_005253.3:p.Cys165=