Canonical Allele Identifier: CA9532153

Gene: FKRP

Linked Data

• ClinVar Variation Id: 289565
• ClinVar RCV Id: RCV000408156 ; RCV000464325 ; RCV000765452 ; RCV000710136 ; RCV001275311 ; RCV002338856 ; RCV003224253
• dbSNP Id: rs199714523
• ExAC: 19:47259163 C / G
• gnomAD v2: 19-47259163-C-G
• gnomAD v3: 19-46755906-C-G
• gnomAD v4: 19-46755906-C-G
• MyVariant Identifiers: chr19:g.47259163C>G (hg19) ; chr19:g.46755906C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46755906C>G , CM000681.2:g.46755906C>G	GRCh38
NC_000019.9:g.47259163C>G , CM000681.1:g.47259163C>G	GRCh37
NC_000019.8:g.51951003C>G	NCBI36
NG_008898.2:g.14861C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318584.10:c.456C>G MANE Select	ENSP00000326570.4:p.Ser152Arg
ENST00000318584.9:c.456C>G	ENSP00000326570.4:p.Ser152Arg
ENST00000391909.7:c.456C>G	ENSP00000375776.2:p.Ser152Arg
ENST00000594467.5:c.27C>G	ENSP00000471971.1:p.Ser9Arg
ENST00000597339.5:n.247-5927C>G
ENST00000600646.5:n.247+7241C>G
ENST00000601299.5:c.456C>G	ENSP00000470103.1:p.Ser152Arg
NM_001039885.2:c.456C>G	NP_001034974.1:p.Ser152Arg
NM_024301.4:c.456C>G	NP_077277.1:p.Ser152Arg
XM_005259247.1:c.456C>G	XP_005259304.1:p.Ser152Arg
XM_005259248.1:c.456C>G	XP_005259305.1:p.Ser152Arg
XM_005259249.3:c.456C>G	XP_005259306.1:p.Ser152Arg
XM_005259250.3:c.456C>G	XP_005259307.1:p.Ser152Arg
XM_011527301.1:c.456C>G	XP_011525603.1:p.Ser152Arg
XM_011527302.1:c.456C>G	XP_011525604.1:p.Ser152Arg
XM_011527303.1:c.456C>G	XP_011525605.1:p.Ser152Arg
XM_011527304.1:c.456C>G	XP_011525606.1:p.Ser152Arg
XM_011527305.1:c.456C>G	XP_011525607.1:p.Ser152Arg
XM_011527306.1:c.456C>G	XP_011525608.1:p.Ser152Arg
XM_011527307.1:c.456C>G	XP_011525609.1:p.Ser152Arg
XM_005259247.2:c.456C>G	XP_005259304.1:p.Ser152Arg
XM_005259248.2:c.456C>G	XP_005259305.1:p.Ser152Arg
XM_005259249.4:c.456C>G	XP_005259306.1:p.Ser152Arg
XM_011527306.2:c.456C>G	XP_011525608.1:p.Ser152Arg
XM_017027297.2:c.456C>G	XP_016882786.1:p.Ser152Arg
XM_024451707.1:c.456C>G	XP_024307475.1:p.Ser152Arg
NM_001039885.3:c.456C>G	NP_001034974.1:p.Ser152Arg
NM_024301.5:c.456C>G MANE Select	NP_077277.1:p.Ser152Arg