Canonical Allele Identifier: CA2682393

Gene: GFM1 LXN

Linked Data

• ClinVar Variation Id: 509754
• ClinVar RCV Id: RCV000851196 ; RCV001377165 ; RCV003465353
• dbSNP Id: rs751069628
• ExAC: 3:158367854 G / A
• gnomAD v2: 3-158367854-G-A
• gnomAD v4: 3-158650065-G-A
• MyVariant Identifiers: chr3:g.158367854G>A (hg19) ; chr3:g.158650065G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158650065G>A , CM000665.2:g.158650065G>A	GRCh38
NC_000003.11:g.158367854G>A , CM000665.1:g.158367854G>A	GRCh37
NC_000003.10:g.159850548G>A	NCBI36
NG_008441.1:g.10538G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486715.6:c.689+908G>A (GFM1) MANE Select	ENSP00000419038.1:n.689+908G>A
ENST00000264263.9:c.746+4G>A (GFM1)	ENSP00000264263.5:n.746+4G>A
ENST00000478251.1:n.1085G>A (GFM1)
ENST00000478254.5:c.689+908G>A (GFM1)	ENSP00000417225.1:n.689+908G>A
ENST00000478576.5:c.689+908G>A (GFM1)	ENSP00000418755.1:n.689+908G>A
ENST00000482640.5:c.362-3856C>T (LXN)
ENST00000486715.5:c.689+908G>A (GFM1)	ENSP00000419038.1:n.689+908G>A
NM_001308164.1:c.746+4G>A (GFM1)	NP_001295093.1:n.746+4G>A
NM_001308166.1:c.689+908G>A (GFM1)	NP_001295095.1:n.689+908G>A
NM_024996.5:c.689+908G>A (GFM1)	NP_079272.4:n.689+908G>A
XM_006713795.1:c.573-2031G>A (GFM1)	XP_006713858.1:n.573-2031G>A
XM_006713795.2:c.573-2031G>A (GFM1)	XP_006713858.1:n.573-2031G>A
NM_001374355.1:c.746+4G>A (GFM1)	NP_001361284.1:n.746+4G>A
NM_001374356.1:c.573-2031G>A (GFM1)	NP_001361285.1:n.573-2031G>A
NM_001374357.1:c.464+908G>A (GFM1)	NP_001361286.1:n.464+908G>A
NM_001374358.1:c.235-2035G>A (GFM1)	NP_001361287.1:n.235-2035G>A
NM_001374359.1:c.122+908G>A (GFM1)	NP_001361288.1:n.122+908G>A
NM_001374360.1:c.122+908G>A (GFM1)	NP_001361289.1:n.122+908G>A
NM_001374361.1:c.6-2031G>A (GFM1)	NP_001361290.1:n.6-2031G>A
NM_024996.7:c.689+908G>A (GFM1) MANE Select	NP_079272.4:n.689+908G>A
NR_164499.1:n.797+908G>A (GFM1)
NR_164500.1:n.797+908G>A (GFM1)
NR_164501.1:n.343-2031G>A (GFM1)
NR_164502.1:n.681-2031G>A (GFM1)
NM_001308164.2:c.746+4G>A (GFM1)	NP_001295093.1:n.746+4G>A
NM_001308166.2:c.689+908G>A (GFM1)	NP_001295095.1:n.689+908G>A