Canonical Allele Identifier: CA436481129

Gene: GFM1

Linked Data

• gnomAD v4: 3-158645686-C-A
• MyVariant Identifiers: chr3:g.158363475C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158645686C>A , CM000665.2:g.158645686C>A	GRCh38
NC_000003.11:g.158363475C>A , CM000665.1:g.158363475C>A	GRCh37
NC_000003.10:g.159846169C>A	NCBI36
NG_008441.1:g.6159C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000486715.6:c.139C>A MANE Select	ENSP00000419038.1:p.Arg47=
ENST00000264263.9:c.139C>A	ENSP00000264263.5:p.Arg47=
ENST00000464732.1:c.-87C>A	ENSP00000417532.1:n.-87C>A
ENST00000478254.5:c.139C>A	ENSP00000417225.1:p.Arg47=
ENST00000478576.5:c.139C>A	ENSP00000418755.1:p.Arg47=
ENST00000486715.5:c.139C>A	ENSP00000419038.1:p.Arg47=
NM_001308164.1:c.139C>A	NP_001295093.1:p.Arg47=
NM_001308166.1:c.139C>A	NP_001295095.1:p.Arg47=
NM_024996.5:c.139C>A	NP_079272.4:p.Arg47=
XM_006713795.1:c.139C>A	XP_006713858.1:p.Arg47=
XM_006713795.2:c.139C>A	XP_006713858.1:p.Arg47=
NM_001374355.1:c.139C>A	NP_001361284.1:p.Arg47=
NM_001374356.1:c.139C>A	NP_001361285.1:p.Arg47=
NM_001374357.1:c.-87C>A	NP_001361286.1:n.-87C>A
NM_001374358.1:c.139C>A	NP_001361287.1:p.Arg47=
NM_001374359.1:c.-91C>A	NP_001361288.1:n.-91C>A
NM_001374360.1:c.-91C>A	NP_001361289.1:n.-91C>A
NM_001374361.1:c.-91C>A	NP_001361290.1:n.-91C>A
NM_024996.7:c.139C>A MANE Select	NP_079272.4:p.Arg47=
NR_164499.1:n.247C>A
NR_164500.1:n.247C>A
NR_164501.1:n.247C>A
NR_164502.1:n.247C>A
NM_001308164.2:c.139C>A	NP_001295093.1:p.Arg47=
NM_001308166.2:c.139C>A	NP_001295095.1:p.Arg47=