Canonical Allele Identifier: CA355176292

Gene: GFM1 LXN

Linked Data

• gnomAD v4: 3-158649092-G-C
• MyVariant Identifiers: chr3:g.158366881G>C (hg19) ; chr3:g.158649092G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158649092G>C , CM000665.2:g.158649092G>C	GRCh38
NC_000003.11:g.158366881G>C , CM000665.1:g.158366881G>C	GRCh37
NC_000003.10:g.159849575G>C	NCBI36
NG_008441.1:g.9565G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000486715.6:c.624G>C (GFM1) MANE Select	ENSP00000419038.1:p.Glu208Asp
ENST00000264263.9:c.624G>C (GFM1)	ENSP00000264263.5:p.Glu208Asp
ENST00000478251.1:n.112G>C (GFM1)
ENST00000478254.5:c.624G>C (GFM1)	ENSP00000417225.1:p.Glu208Asp
ENST00000478576.5:c.624G>C (GFM1)	ENSP00000418755.1:p.Glu208Asp
ENST00000482640.5:c.362-2883C>G (LXN)
ENST00000486715.5:c.624G>C (GFM1)	ENSP00000419038.1:p.Glu208Asp
NM_001308164.1:c.624G>C (GFM1)	NP_001295093.1:p.Glu208Asp
NM_001308166.1:c.624G>C (GFM1)	NP_001295095.1:p.Glu208Asp
NM_024996.5:c.624G>C (GFM1)	NP_079272.4:p.Glu208Asp
XM_006713795.1:c.572+2145G>C (GFM1)	XP_006713858.1:n.572+2145G>C
XM_006713795.2:c.572+2145G>C (GFM1)	XP_006713858.1:n.572+2145G>C
NM_001374355.1:c.624G>C (GFM1)	NP_001361284.1:p.Glu208Asp
NM_001374356.1:c.572+2145G>C (GFM1)	NP_001361285.1:n.572+2145G>C
NM_001374357.1:c.399G>C (GFM1)	NP_001361286.1:p.Glu133Asp
NM_001374358.1:c.235-3008G>C (GFM1)	NP_001361287.1:n.235-3008G>C
NM_001374359.1:c.57G>C (GFM1)	NP_001361288.1:p.Glu19Asp
NM_001374360.1:c.57G>C (GFM1)	NP_001361289.1:p.Glu19Asp
NM_001374361.1:c.6-3004G>C (GFM1)	NP_001361290.1:n.6-3004G>C
NM_024996.7:c.624G>C (GFM1) MANE Select	NP_079272.4:p.Glu208Asp
NR_164499.1:n.732G>C (GFM1)
NR_164500.1:n.732G>C (GFM1)
NR_164501.1:n.343-3004G>C (GFM1)
NR_164502.1:n.680+2145G>C (GFM1)
NM_001308164.2:c.624G>C (GFM1)	NP_001295093.1:p.Glu208Asp
NM_001308166.2:c.624G>C (GFM1)	NP_001295095.1:p.Glu208Asp