Canonical Allele Identifier: CA116724

Gene: FKRP

Linked Data

• ClinVar Variation Id: 4233
• ClinVar RCV Id: RCV000004455 ; RCV000004454 ; RCV000494504 ; RCV000805125 ; RCV000844942 ; RCV003488324
• dbSNP Id: rs104894692
• ExAC: 19:47259626 T / A
• gnomAD v2: 19-47259626-T-A
• gnomAD v3: 19-46756369-T-A
• gnomAD v4: 19-46756369-T-A
• MyVariant Identifiers: chr19:g.47259626T>A (hg19) ; chr19:g.46756369T>A (hg38)
• PubMed: PMID:12666124 ; PMID:15121789

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46756369T>A , CM000681.2:g.46756369T>A	GRCh38
NC_000019.9:g.47259626T>A , CM000681.1:g.47259626T>A	GRCh37
NC_000019.8:g.51951466T>A	NCBI36
NG_008898.2:g.15324T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318584.10:c.919T>A MANE Select	ENSP00000326570.4:p.Tyr307Asn
ENST00000318584.9:c.919T>A	ENSP00000326570.4:p.Tyr307Asn
ENST00000391909.7:c.919T>A	ENSP00000375776.2:p.Tyr307Asn
ENST00000597339.5:n.247-5464T>A
ENST00000600646.5:n.247+7704T>A
NM_001039885.2:c.919T>A	NP_001034974.1:p.Tyr307Asn
NM_024301.4:c.919T>A	NP_077277.1:p.Tyr307Asn
XM_005259247.1:c.919T>A	XP_005259304.1:p.Tyr307Asn
XM_005259248.1:c.919T>A	XP_005259305.1:p.Tyr307Asn
XM_005259249.3:c.919T>A	XP_005259306.1:p.Tyr307Asn
XM_005259250.3:c.919T>A	XP_005259307.1:p.Tyr307Asn
XM_011527301.1:c.919T>A	XP_011525603.1:p.Tyr307Asn
XM_011527302.1:c.919T>A	XP_011525604.1:p.Tyr307Asn
XM_011527303.1:c.919T>A	XP_011525605.1:p.Tyr307Asn
XM_011527304.1:c.919T>A	XP_011525606.1:p.Tyr307Asn
XM_011527305.1:c.919T>A	XP_011525607.1:p.Tyr307Asn
XM_011527306.1:c.919T>A	XP_011525608.1:p.Tyr307Asn
XM_011527307.1:c.919T>A	XP_011525609.1:p.Tyr307Asn
XM_005259247.2:c.919T>A	XP_005259304.1:p.Tyr307Asn
XM_005259248.2:c.919T>A	XP_005259305.1:p.Tyr307Asn
XM_005259249.4:c.919T>A	XP_005259306.1:p.Tyr307Asn
XM_011527306.2:c.919T>A	XP_011525608.1:p.Tyr307Asn
XM_017027297.2:c.919T>A	XP_016882786.1:p.Tyr307Asn
XM_024451707.1:c.919T>A	XP_024307475.1:p.Tyr307Asn
NM_001039885.3:c.919T>A	NP_001034974.1:p.Tyr307Asn
NM_024301.5:c.919T>A MANE Select	NP_077277.1:p.Tyr307Asn