Canonical Allele Identifier: CA2201967746
Gene: GFER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985929G= , CM000678.2:g.1985929G= GRCh38
NC_000016.9:g.2035930G= , CM000678.1:g.2035930G= GRCh37
NC_000016.8:g.1975931G= NCBI36
NG_016288.1:g.6781G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.294G= ENSP00000455885.1:p.Leu98=
ENST00000248114.7:c.519G= MANE Select ENSP00000248114.6:p.Leu173=
ENST00000248114.6:c.519G= ENSP00000248114.6:p.Leu173=
ENST00000565658.1:n.676G=
ENST00000567719.1:c.294G= ENSP00000455885.1:p.Leu98=
ENST00000569451.1:c.322G= ENSP00000456432.1:p.Ala108=
NM_005262.2:c.519G= NP_005253.3:p.Leu173=
NM_005262.3:c.519G= MANE Select NP_005253.3:p.Leu173=