Canonical Allele Identifier: CA119839
Gene: GFER HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8691
dbSNP Id: rs121908192

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985991G>A , CM000678.2:g.1985991G>A GRCh38
NC_000016.9:g.2035992G>A , CM000678.1:g.2035992G>A GRCh37
NC_000016.8:g.1975993G>A NCBI36
NG_016288.1:g.6843G>A

Transcript Alleles

HGVS Amino-acid change
NM_005262.2:c.581G>A VV NP_005253.3:p.Arg194His
ENST00000248114.6:c.581G>A ENSP00000248114.6:p.Arg194His
ENST00000565658.1:n.738G>A
ENST00000567719.1:c.356G>A ENSP00000455885.1:p.Arg119His
ENST00000569451.1:c.*54G>A ENSP00000456432.1:p.=