Canonical Allele Identifier: CA436481172

Gene: GFM1

Linked Data

• ClinVar Variation Id: 1941785
• ClinVar RCV Id: RCV002675718
• gnomAD v4: 3-158645700-C-T
• MyVariant Identifiers: chr3:g.158363489C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158645700C>T , CM000665.2:g.158645700C>T	GRCh38
NC_000003.11:g.158363489C>T , CM000665.1:g.158363489C>T	GRCh37
NC_000003.10:g.159846183C>T	NCBI36
NG_008441.1:g.6173C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000486715.6:c.153C>T MANE Select	ENSP00000419038.1:p.Ile51=
ENST00000264263.9:c.153C>T	ENSP00000264263.5:p.Ile51=
ENST00000464732.1:c.-73C>T	ENSP00000417532.1:n.-73C>T
ENST00000478254.5:c.153C>T	ENSP00000417225.1:p.Ile51=
ENST00000478576.5:c.153C>T	ENSP00000418755.1:p.Ile51=
ENST00000486715.5:c.153C>T	ENSP00000419038.1:p.Ile51=
NM_001308164.1:c.153C>T	NP_001295093.1:p.Ile51=
NM_001308166.1:c.153C>T	NP_001295095.1:p.Ile51=
NM_024996.5:c.153C>T	NP_079272.4:p.Ile51=
XM_006713795.1:c.153C>T	XP_006713858.1:p.Ile51=
XM_006713795.2:c.153C>T	XP_006713858.1:p.Ile51=
NM_001374355.1:c.153C>T	NP_001361284.1:p.Ile51=
NM_001374356.1:c.153C>T	NP_001361285.1:p.Ile51=
NM_001374357.1:c.-73C>T	NP_001361286.1:n.-73C>T
NM_001374358.1:c.153C>T	NP_001361287.1:p.Ile51=
NM_001374359.1:c.-77C>T	NP_001361288.1:n.-77C>T
NM_001374360.1:c.-77C>T	NP_001361289.1:n.-77C>T
NM_001374361.1:c.-77C>T	NP_001361290.1:n.-77C>T
NM_024996.7:c.153C>T MANE Select	NP_079272.4:p.Ile51=
NR_164499.1:n.261C>T
NR_164500.1:n.261C>T
NR_164501.1:n.261C>T
NR_164502.1:n.261C>T
NM_001308164.2:c.153C>T	NP_001295093.1:p.Ile51=
NM_001308166.2:c.153C>T	NP_001295095.1:p.Ile51=