Canonical Allele Identifier: CA2682612

Gene: GFM1 LXN

Linked Data

• ClinVar Variation Id: 343931
• ClinVar RCV Id: RCV000286924 ; RCV000424127 ; RCV002057852
• dbSNP Id: rs375168014
• ExAC: 3:158380402 T / A
• gnomAD v2: 3-158380402-T-A
• gnomAD v3: 3-158662613-T-A
• gnomAD v4: 3-158662613-T-A
• MyVariant Identifiers: chr3:g.158380402T>A (hg19) ; chr3:g.158662613T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158662613T>A , CM000665.2:g.158662613T>A	GRCh38
NC_000003.11:g.158380402T>A , CM000665.1:g.158380402T>A	GRCh37
NC_000003.10:g.159863096T>A	NCBI36
NG_008441.1:g.23086T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486715.6:c.1324-15T>A (GFM1) MANE Select	ENSP00000419038.1:n.1324-15T>A
ENST00000264263.9:c.1381-15T>A (GFM1)	ENSP00000264263.5:n.1381-15T>A
ENST00000478254.5:c.1326-15T>A (GFM1)	ENSP00000417225.1:n.1326-15T>A
ENST00000478576.5:c.1324-15T>A (GFM1)	ENSP00000418755.1:n.1324-15T>A
ENST00000482640.5:c.361+4399A>T (LXN)
ENST00000486715.5:c.1324-15T>A (GFM1)	ENSP00000419038.1:n.1324-15T>A
ENST00000490261.1:n.464-15T>A (GFM1)
NM_001308164.1:c.1381-15T>A (GFM1)	NP_001295093.1:n.1381-15T>A
NM_001308166.1:c.1324-15T>A (GFM1)	NP_001295095.1:n.1324-15T>A
NM_024996.5:c.1324-15T>A (GFM1)	NP_079272.4:n.1324-15T>A
XM_006713795.1:c.1207-15T>A (GFM1)	XP_006713858.1:n.1207-15T>A
XM_006713795.2:c.1207-15T>A (GFM1)	XP_006713858.1:n.1207-15T>A
NM_001374355.1:c.1243-15T>A (GFM1)	NP_001361284.1:n.1243-15T>A
NM_001374356.1:c.1207-15T>A (GFM1)	NP_001361285.1:n.1207-15T>A
NM_001374357.1:c.1099-15T>A (GFM1)	NP_001361286.1:n.1099-15T>A
NM_001374358.1:c.865-15T>A (GFM1)	NP_001361287.1:n.865-15T>A
NM_001374359.1:c.757-15T>A (GFM1)	NP_001361288.1:n.757-15T>A
NM_001374360.1:c.757-15T>A (GFM1)	NP_001361289.1:n.757-15T>A
NM_001374361.1:c.640-15T>A (GFM1)	NP_001361290.1:n.640-15T>A
NM_024996.7:c.1324-15T>A (GFM1) MANE Select	NP_079272.4:n.1324-15T>A
NR_164499.1:n.1347-15T>A (GFM1)
NR_164500.1:n.1432-15T>A (GFM1)
NR_164501.1:n.977-15T>A (GFM1)
NR_164502.1:n.1311-15T>A (GFM1)
NM_001308164.2:c.1381-15T>A (GFM1)	NP_001295093.1:n.1381-15T>A
NM_001308166.2:c.1324-15T>A (GFM1)	NP_001295095.1:n.1324-15T>A