Canonical Allele Identifier: CA436481402

Gene: GFM1

Linked Data

• gnomAD v4: 3-158645781-G-A
• MyVariant Identifiers: chr3:g.158363570G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158645781G>A , CM000665.2:g.158645781G>A	GRCh38
NC_000003.11:g.158363570G>A , CM000665.1:g.158363570G>A	GRCh37
NC_000003.10:g.159846264G>A	NCBI36
NG_008441.1:g.6254G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486715.6:c.234G>A MANE Select	ENSP00000419038.1:p.Glu78=
ENST00000264263.9:c.234G>A	ENSP00000264263.5:p.Glu78=
ENST00000464732.1:c.9G>A	ENSP00000417532.1:p.Glu3=
ENST00000478254.5:c.234G>A	ENSP00000417225.1:p.Glu78=
ENST00000478576.5:c.234G>A	ENSP00000418755.1:p.Glu78=
ENST00000486715.5:c.234G>A	ENSP00000419038.1:p.Glu78=
NM_001308164.1:c.234G>A	NP_001295093.1:p.Glu78=
NM_001308166.1:c.234G>A	NP_001295095.1:p.Glu78=
NM_024996.5:c.234G>A	NP_079272.4:p.Glu78=
XM_006713795.1:c.234G>A	XP_006713858.1:p.Glu78=
XM_006713795.2:c.234G>A	XP_006713858.1:p.Glu78=
NM_001374355.1:c.234G>A	NP_001361284.1:p.Glu78=
NM_001374356.1:c.234G>A	NP_001361285.1:p.Glu78=
NM_001374357.1:c.9G>A	NP_001361286.1:p.Glu3=
NM_001374358.1:c.234G>A	NP_001361287.1:p.Glu78=
NM_001374359.1:c.5G>A	NP_001361288.1:p.Arg2Lys
NM_001374360.1:c.5G>A	NP_001361289.1:p.Arg2Lys
NM_001374361.1:c.5G>A	NP_001361290.1:p.Ser2Asn
NM_024996.7:c.234G>A MANE Select	NP_079272.4:p.Glu78=
NR_164499.1:n.342G>A
NR_164500.1:n.342G>A
NR_164501.1:n.342G>A
NR_164502.1:n.342G>A
NM_001308164.2:c.234G>A	NP_001295093.1:p.Glu78=
NM_001308166.2:c.234G>A	NP_001295095.1:p.Glu78=