Canonical Allele Identifier: CA2201967891
Gene: GFER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1986026T= , CM000678.2:g.1986026T= GRCh38
NC_000016.9:g.2036027T= , CM000678.1:g.2036027T= GRCh37
NC_000016.8:g.1976028T= NCBI36
NG_016288.1:g.6878T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.391T= ENSP00000455885.1:p.Ter131=
ENST00000248114.7:c.616T= MANE Select ENSP00000248114.6:p.Ter206=
ENST00000248114.6:c.616T= ENSP00000248114.6:p.Ter206=
ENST00000565658.1:n.773T=
ENST00000567719.1:c.391T= ENSP00000455885.1:p.Ter131=
ENST00000569451.1:c.*89T= ENSP00000456432.1:n.*89T=
NM_005262.2:c.616T= NP_005253.3:p.Ter206=
NM_005262.3:c.616T= MANE Select NP_005253.3:p.Ter206=