Canonical Allele Identifier: CA394304233

Gene: GFER

Linked Data

• dbSNP Id: rs201112184
• gnomAD v4: 16-1985945-C-G
• MyVariant Identifiers: chr16:g.2035946C>G (hg19) ; chr16:g.1985945C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1985945C>G , CM000678.2:g.1985945C>G	GRCh38
NC_000016.9:g.2035946C>G , CM000678.1:g.2035946C>G	GRCh37
NC_000016.8:g.1975947C>G	NCBI36
NG_016288.1:g.6797C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567719.2:c.310C>G	ENSP00000455885.1:p.Arg104Gly
ENST00000248114.7:c.535C>G MANE Select	ENSP00000248114.6:p.Arg179Gly
ENST00000248114.6:c.535C>G	ENSP00000248114.6:p.Arg179Gly
ENST00000565658.1:n.692C>G
ENST00000567719.1:c.310C>G	ENSP00000455885.1:p.Arg104Gly
ENST00000569451.1:c.*8C>G	ENSP00000456432.1:n.*8C>G
NM_005262.2:c.535C>G	NP_005253.3:p.Arg179Gly
NM_005262.3:c.535C>G MANE Select	NP_005253.3:p.Arg179Gly