Canonical Allele Identifier: CA394303682
Gene: GFER HGNC NCBI

Linked Data

gnomAD v4: 16-1985873-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985873A>G , CM000678.2:g.1985873A>G GRCh38
NC_000016.9:g.2035874A>G , CM000678.1:g.2035874A>G GRCh37
NC_000016.8:g.1975875A>G NCBI36
NG_016288.1:g.6725A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.238A>G ENSP00000455885.1:p.Arg80Gly
ENST00000248114.7:c.463A>G MANE Select ENSP00000248114.6:p.Arg155Gly
ENST00000248114.6:c.463A>G ENSP00000248114.6:p.Arg155Gly
ENST00000565658.1:n.620A>G
ENST00000567719.1:c.238A>G ENSP00000455885.1:p.Arg80Gly
ENST00000569451.1:c.266A>G ENSP00000456432.1:p.Gln89Arg
NM_005262.2:c.463A>G NP_005253.3:p.Arg155Gly
NM_005262.3:c.463A>G MANE Select NP_005253.3:p.Arg155Gly