Canonical Allele Identifier: CA210569

Gene: GFM1 LXN

Linked Data

• ClinVar Variation Id: 30598
• ClinVar RCV Id: RCV000023564 ; RCV000851197 ; RCV000800330 ; RCV003156063
• dbSNP Id: rs139430866
• ExAC: 3:158369943 C / T
• gnomAD v2: 3-158369943-C-T
• gnomAD v3: 3-158652154-C-T
• gnomAD v4: 3-158652154-C-T
• MyVariant Identifiers: chr3:g.158369943C>T (hg19) ; chr3:g.158652154C>T (hg38)
• PubMed: PMID:21119709

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158652154C>T , CM000665.2:g.158652154C>T	GRCh38
NC_000003.11:g.158369943C>T , CM000665.1:g.158369943C>T	GRCh37
NC_000003.10:g.159852637C>T	NCBI36
NG_008441.1:g.12627C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486715.6:c.748C>T (GFM1) MANE Select	ENSP00000419038.1:p.Arg250Trp
ENST00000264263.9:c.805C>T (GFM1)	ENSP00000264263.5:p.Arg269Trp
ENST00000478254.5:c.748C>T (GFM1)	ENSP00000417225.1:p.Arg250Trp
ENST00000478576.5:c.748C>T (GFM1)	ENSP00000418755.1:p.Arg250Trp
ENST00000482640.5:c.362-5945G>A (LXN)
ENST00000486715.5:c.748C>T (GFM1)	ENSP00000419038.1:p.Arg250Trp
NM_001308164.1:c.805C>T (GFM1)	NP_001295093.1:p.Arg269Trp
NM_001308166.1:c.748C>T (GFM1)	NP_001295095.1:p.Arg250Trp
NM_024996.5:c.748C>T (GFM1)	NP_079272.4:p.Arg250Trp
XM_006713795.1:c.631C>T (GFM1)	XP_006713858.1:p.Arg211Trp
XM_006713795.2:c.631C>T (GFM1)	XP_006713858.1:p.Arg211Trp
NM_001374355.1:c.805C>T (GFM1)	NP_001361284.1:p.Arg269Trp
NM_001374356.1:c.631C>T (GFM1)	NP_001361285.1:p.Arg211Trp
NM_001374357.1:c.523C>T (GFM1)	NP_001361286.1:p.Arg175Trp
NM_001374358.1:c.289C>T (GFM1)	NP_001361287.1:p.Arg97Trp
NM_001374359.1:c.181C>T (GFM1)	NP_001361288.1:p.Arg61Trp
NM_001374360.1:c.181C>T (GFM1)	NP_001361289.1:p.Arg61Trp
NM_001374361.1:c.64C>T (GFM1)	NP_001361290.1:p.Arg22Trp
NM_024996.7:c.748C>T (GFM1) MANE Select	NP_079272.4:p.Arg250Trp
NR_164499.1:n.856C>T (GFM1)
NR_164500.1:n.856C>T (GFM1)
NR_164501.1:n.401C>T (GFM1)
NR_164502.1:n.739C>T (GFM1)
NM_001308164.2:c.805C>T (GFM1)	NP_001295093.1:p.Arg269Trp
NM_001308166.2:c.748C>T (GFM1)	NP_001295095.1:p.Arg250Trp