Canonical Allele Identifier: CA2201967780
Gene: GFER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985948A= , CM000678.2:g.1985948A= GRCh38
NC_000016.9:g.2035949A= , CM000678.1:g.2035949A= GRCh37
NC_000016.8:g.1975950A= NCBI36
NG_016288.1:g.6800A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.313A= ENSP00000455885.1:p.Lys105=
ENST00000248114.7:c.538A= MANE Select ENSP00000248114.6:p.Lys180=
ENST00000248114.6:c.538A= ENSP00000248114.6:p.Lys180=
ENST00000565658.1:n.695A=
ENST00000567719.1:c.313A= ENSP00000455885.1:p.Lys105=
ENST00000569451.1:c.*11A= ENSP00000456432.1:n.*11A=
NM_005262.2:c.538A= NP_005253.3:p.Lys180=
NM_005262.3:c.538A= MANE Select NP_005253.3:p.Lys180=