Canonical Allele Identifier: CA321899

Gene: GFM1 LXN

Linked Data

• ClinVar Variation Id: 214483
• ClinVar RCV Id: RCV000197431 ; RCV000415998 ; RCV001001208
• dbSNP Id: rs201685981
• ExAC: 3:158369880 C / G
• gnomAD v2: 3-158369880-C-G
• gnomAD v3: 3-158652091-C-G
• gnomAD v4: 3-158652091-C-G
• MyVariant Identifiers: chr3:g.158369880C>G (hg19) ; chr3:g.158652091C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158652091C>G , CM000665.2:g.158652091C>G	GRCh38
NC_000003.11:g.158369880C>G , CM000665.1:g.158369880C>G	GRCh37
NC_000003.10:g.159852574C>G	NCBI36
NG_008441.1:g.12564C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486715.6:c.690-5C>G (GFM1) MANE Select	ENSP00000419038.1:n.690-5C>G
ENST00000264263.9:c.747-5C>G (GFM1)	ENSP00000264263.5:n.747-5C>G
ENST00000478254.5:c.690-5C>G (GFM1)	ENSP00000417225.1:n.690-5C>G
ENST00000478576.5:c.690-5C>G (GFM1)	ENSP00000418755.1:n.690-5C>G
ENST00000482640.5:c.362-5882G>C (LXN)
ENST00000486715.5:c.690-5C>G (GFM1)	ENSP00000419038.1:n.690-5C>G
NM_001308164.1:c.747-5C>G (GFM1)	NP_001295093.1:n.747-5C>G
NM_001308166.1:c.690-5C>G (GFM1)	NP_001295095.1:n.690-5C>G
NM_024996.5:c.690-5C>G (GFM1)	NP_079272.4:n.690-5C>G
XM_006713795.1:c.573-5C>G (GFM1)	XP_006713858.1:n.573-5C>G
XM_006713795.2:c.573-5C>G (GFM1)	XP_006713858.1:n.573-5C>G
NM_001374355.1:c.747-5C>G (GFM1)	NP_001361284.1:n.747-5C>G
NM_001374356.1:c.573-5C>G (GFM1)	NP_001361285.1:n.573-5C>G
NM_001374357.1:c.465-5C>G (GFM1)	NP_001361286.1:n.465-5C>G
NM_001374358.1:c.235-9C>G (GFM1)	NP_001361287.1:n.235-9C>G
NM_001374359.1:c.123-5C>G (GFM1)	NP_001361288.1:n.123-5C>G
NM_001374360.1:c.123-5C>G (GFM1)	NP_001361289.1:n.123-5C>G
NM_001374361.1:c.6-5C>G (GFM1)	NP_001361290.1:n.6-5C>G
NM_024996.7:c.690-5C>G (GFM1) MANE Select	NP_079272.4:n.690-5C>G
NR_164499.1:n.798-5C>G (GFM1)
NR_164500.1:n.798-5C>G (GFM1)
NR_164501.1:n.343-5C>G (GFM1)
NR_164502.1:n.681-5C>G (GFM1)
NM_001308164.2:c.747-5C>G (GFM1)	NP_001295093.1:n.747-5C>G
NM_001308166.2:c.690-5C>G (GFM1)	NP_001295095.1:n.690-5C>G