Canonical Allele Identifier: CA718839761

Gene: GFER

Linked Data

• dbSNP Id: rs1415261833
• gnomAD v3: 16-1985806-A-G
• gnomAD v4: 16-1985806-A-G
• MyVariant Identifiers: chr16:g.2035807A>G (hg19) ; chr16:g.1985806A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1985806A>G , CM000678.2:g.1985806A>G	GRCh38
NC_000016.9:g.2035807A>G , CM000678.1:g.2035807A>G	GRCh37
NC_000016.8:g.1975808A>G	NCBI36
NG_016288.1:g.6658A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567719.2:c.231-60A>G	ENSP00000455885.1:n.231-60A>G
ENST00000248114.7:c.456-60A>G MANE Select	ENSP00000248114.6:n.456-60A>G
ENST00000248114.6:c.456-60A>G	ENSP00000248114.6:n.456-60A>G
ENST00000565658.1:n.613-60A>G
ENST00000567719.1:c.231-60A>G	ENSP00000455885.1:n.231-60A>G
ENST00000569451.1:c.259-60A>G	ENSP00000456432.1:n.259-60A>G
NM_005262.2:c.456-60A>G	NP_005253.3:n.456-60A>G
NM_005262.3:c.456-60A>G MANE Select	NP_005253.3:n.456-60A>G