Canonical Allele Identifier: CA321080

Gene: GFM1

Linked Data

• ClinVar Variation Id: 214491
• ClinVar RCV Id: RCV000196656 ; RCV001273487
• dbSNP Id: rs863224030
• gnomAD v4: 3-158644637-G-A
• MyVariant Identifiers: chr3:g.158362426G>A (hg19) ; chr3:g.158644637G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158644637G>A , CM000665.2:g.158644637G>A	GRCh38
NC_000003.11:g.158362426G>A , CM000665.1:g.158362426G>A	GRCh37
NC_000003.10:g.159845120G>A	NCBI36
NG_008441.1:g.5110G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486715.6:c.3G>A MANE Select	ENSP00000419038.1:p.Met1Ile
ENST00000264263.9:c.3G>A	ENSP00000264263.5:p.Met1Ile
ENST00000478254.5:c.3G>A	ENSP00000417225.1:p.Met1Ile
ENST00000478576.5:c.3G>A	ENSP00000418755.1:p.Met1Ile
ENST00000486715.5:c.3G>A	ENSP00000419038.1:p.Met1Ile
NM_001308164.1:c.3G>A	NP_001295093.1:p.Met1Ile
NM_001308166.1:c.3G>A	NP_001295095.1:p.Met1Ile
NM_024996.5:c.3G>A	NP_079272.4:p.Met1Ile
XM_006713795.1:c.3G>A	XP_006713858.1:p.Met1Ile
XM_006713795.2:c.3G>A	XP_006713858.1:p.Met1Ile
NM_001374355.1:c.3G>A	NP_001361284.1:p.Met1Ile
NM_001374356.1:c.3G>A	NP_001361285.1:p.Met1Ile
NM_001374357.1:c.-389G>A	NP_001361286.1:n.-389G>A
NM_001374358.1:c.3G>A	NP_001361287.1:p.Met1Ile
NM_001374359.1:c.-227G>A	NP_001361288.1:n.-227G>A
NM_001374360.1:c.-227G>A	NP_001361289.1:n.-227G>A
NM_001374361.1:c.-227G>A	NP_001361290.1:n.-227G>A
NM_024996.7:c.3G>A MANE Select	NP_079272.4:p.Met1Ile
NR_164499.1:n.111G>A
NR_164500.1:n.111G>A
NR_164501.1:n.111G>A
NR_164502.1:n.111G>A
NM_001308164.2:c.3G>A	NP_001295093.1:p.Met1Ile
NM_001308166.2:c.3G>A	NP_001295095.1:p.Met1Ile