Canonical Allele Identifier: CA7826092

Gene: GFER

Linked Data

• ClinVar Variation Id: 521763
• ClinVar RCV Id: RCV000622535 ; RCV003479177
• dbSNP Id: rs373135339
• ExAC: 16:2035977 C / G
• gnomAD v2: 16-2035977-C-G
• gnomAD v3: 16-1985976-C-G
• gnomAD v4: 16-1985976-C-G
• MyVariant Identifiers: chr16:g.2035977C>G (hg19) ; chr16:g.1985976C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1985976C>G , CM000678.2:g.1985976C>G	GRCh38
NC_000016.9:g.2035977C>G , CM000678.1:g.2035977C>G	GRCh37
NC_000016.8:g.1975978C>G	NCBI36
NG_016288.1:g.6828C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567719.2:c.341C>G	ENSP00000455885.1:p.Ser114Ter
ENST00000248114.7:c.566C>G MANE Select	ENSP00000248114.6:p.Ser189Ter
ENST00000248114.6:c.566C>G	ENSP00000248114.6:p.Ser189Ter
ENST00000565658.1:n.723C>G
ENST00000567719.1:c.341C>G	ENSP00000455885.1:p.Ser114Ter
ENST00000569451.1:c.*39C>G	ENSP00000456432.1:n.*39C>G
NM_005262.2:c.566C>G	NP_005253.3:p.Ser189Ter
NM_005262.3:c.566C>G MANE Select	NP_005253.3:p.Ser189Ter