Canonical Allele Identifier: CA119839

Gene: GFER

Linked Data

• ClinVar Variation Id: 8691
• ClinVar RCV Id: RCV000009228 ; RCV000199876 ; RCV000624237
• dbSNP Id: rs121908192
• ExAC: 16:2035992 G / A
• gnomAD v2: 16-2035992-G-A
• gnomAD v3: 16-1985991-G-A
• gnomAD v4: 16-1985991-G-A
• MyVariant Identifiers: chr16:g.2035992G>A (hg19) ; chr16:g.1985991G>A (hg38)
• PubMed: PMID:19409522 ; PMID:26018198 ; PMID:26944241 ; PMID:28155230

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
ENST00000567719.2:c.356G>A	ENSP00000455885.1:p.Arg119His
ENST00000248114.7:c.581G>A MANE Select	ENSP00000248114.6: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:n.*54G>A
NM_005262.2:c.581G>A	NP_005253.3:p.Arg194His
NM_005262.3:c.581G>A MANE Select	NP_005253.3:p.Arg194His