Canonical Allele Identifier: CA381732559

Gene: FOLR1

Linked Data

• ClinVar Variation Id: 450195
• ClinVar RCV Id: RCV000524015 ; RCV004023560 ; RCV002525156
• dbSNP Id: rs1555069113
• gnomAD v4: 11-72195424-G-A
• MyVariant Identifiers: chr11:g.71906468G>A (hg19) ; chr11:g.72195424G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72195424G>A , CM000673.2:g.72195424G>A	GRCh38
NC_000011.9:g.71906468G>A , CM000673.1:g.71906468G>A	GRCh37
NC_000011.8:g.71584116G>A	NCBI36
NG_015863.1:g.10867G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312293.9:c.322G>A	ENSP00000308137.4:p.Glu108Lys
ENST00000393676.5:c.322G>A MANE Select	ENSP00000377281.3:p.Glu108Lys
ENST00000675784.1:c.322G>A	ENSP00000502440.1:p.Glu108Lys
ENST00000312293.8:c.322G>A	ENSP00000308137.4:p.Glu108Lys
ENST00000393676.3:c.322G>A	ENSP00000377281.3:p.Glu108Lys
ENST00000393679.5:c.322G>A	ENSP00000377284.1:p.Glu108Lys
ENST00000393681.6:c.322G>A	ENSP00000377286.2:p.Glu108Lys
NM_000802.3:c.322G>A	NP_000793.1:p.Glu108Lys
NM_016724.2:c.322G>A	NP_057936.1:p.Glu108Lys
NM_016725.2:c.322G>A	NP_057937.1:p.Glu108Lys
NM_016729.2:c.322G>A	NP_057941.1:p.Glu108Lys
NM_016729.3:c.322G>A MANE Select	NP_057941.1:p.Glu108Lys
NM_016724.3:c.322G>A	NP_057936.1:p.Glu108Lys
NM_016725.3:c.322G>A	NP_057937.1:p.Glu108Lys