Canonical Allele Identifier: CA116704

Gene: FKRP

Linked Data

• ClinVar Variation Id: 4223
• ClinVar RCV Id: RCV000004444 ; RCV000471321 ; RCV000501528 ; RCV000725596 ; RCV002222339
• dbSNP Id: rs104894682
• ExAC: 19:47260193 T / A
• gnomAD v2: 19-47260193-T-A
• gnomAD v3: 19-46756936-T-A
• gnomAD v4: 19-46756936-T-A
• MyVariant Identifiers: chr19:g.47260193T>A (hg19) ; chr19:g.46756936T>A (hg38)
• PubMed: PMID:12707439

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46756936T>A , CM000681.2:g.46756936T>A	GRCh38
NC_000019.9:g.47260193T>A , CM000681.1:g.47260193T>A	GRCh37
NC_000019.8:g.51952033T>A	NCBI36
NG_008898.2:g.15891T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318584.10:c.1486T>A MANE Select	ENSP00000326570.4:p.Ter496Arg
ENST00000318584.9:c.1486T>A	ENSP00000326570.4:p.Ter496Arg
ENST00000391909.7:c.1486T>A	ENSP00000375776.2:p.Ter496Arg
ENST00000597339.5:n.247-4897T>A
ENST00000600646.5:n.247+8271T>A
NM_001039885.2:c.1486T>A	NP_001034974.1:p.Ter496Arg
NM_024301.4:c.1486T>A	NP_077277.1:p.Ter496Arg
XM_005259247.1:c.1486T>A	XP_005259304.1:p.Ter496Arg
XM_005259248.1:c.1486T>A	XP_005259305.1:p.Ter496Arg
XM_005259249.3:c.1486T>A	XP_005259306.1:p.Ter496Arg
XM_005259250.3:c.1486T>A	XP_005259307.1:p.Ter496Arg
XM_011527301.1:c.1486T>A	XP_011525603.1:p.Ter496Arg
XM_011527302.1:c.1486T>A	XP_011525604.1:p.Ter496Arg
XM_011527303.1:c.1486T>A	XP_011525605.1:p.Ter496Arg
XM_011527304.1:c.1486T>A	XP_011525606.1:p.Ter496Arg
XM_011527305.1:c.1486T>A	XP_011525607.1:p.Ter496Arg
XM_011527306.1:c.1486T>A	XP_011525608.1:p.Ter496Arg
XM_011527307.1:c.1486T>A	XP_011525609.1:p.Ter496Arg
XM_005259247.2:c.1486T>A	XP_005259304.1:p.Ter496Arg
XM_005259248.2:c.1486T>A	XP_005259305.1:p.Ter496Arg
XM_005259249.4:c.1486T>A	XP_005259306.1:p.Ter496Arg
XM_011527306.2:c.1486T>A	XP_011525608.1:p.Ter496Arg
XM_017027297.2:c.1486T>A	XP_016882786.1:p.Ter496Arg
XM_024451707.1:c.1486T>A	XP_024307475.1:p.Ter496Arg
NM_001039885.3:c.1486T>A	NP_001034974.1:p.Ter496Arg
NM_024301.5:c.1486T>A MANE Select	NP_077277.1:p.Ter496Arg