Canonical Allele Identifier: CA394303837
Gene: GFER HGNC NCBI

Linked Data

gnomAD v4: 16-1985891-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985891C>A , CM000678.2:g.1985891C>A GRCh38
NC_000016.9:g.2035892C>A , CM000678.1:g.2035892C>A GRCh37
NC_000016.8:g.1975893C>A NCBI36
NG_016288.1:g.6743C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.256C>A ENSP00000455885.1:p.Arg86Ser
ENST00000248114.7:c.481C>A MANE Select ENSP00000248114.6:p.Arg161Ser
ENST00000248114.6:c.481C>A ENSP00000248114.6:p.Arg161Ser
ENST00000565658.1:n.638C>A
ENST00000567719.1:c.256C>A ENSP00000455885.1:p.Arg86Ser
ENST00000569451.1:c.284C>A ENSP00000456432.1:p.Pro95Gln
NM_005262.2:c.481C>A NP_005253.3:p.Arg161Ser
NM_005262.3:c.481C>A MANE Select NP_005253.3:p.Arg161Ser