Canonical Allele Identifier: CA116712
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 4227
ClinVar RCV Id: RCV000004448 RCV003466809
dbSNP Id: rs28937904
MyVariant Identifiers: chr19:g.47259920G>T (hg19) chr19:g.46756663G>T (hg38)
PubMed: PMID:14652796
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.46756663G>T , CM000681.2:g.46756663G>T GRCh38
NC_000019.9:g.47259920G>T , CM000681.1:g.47259920G>T GRCh37
NC_000019.8:g.51951760G>T NCBI36
NG_008898.2:g.15618G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000318584.10:c.1213G>T MANE Select ENSP00000326570.4:p.Val405Leu
ENST00000318584.9:c.1213G>T ENSP00000326570.4:p.Val405Leu
ENST00000391909.7:c.1213G>T ENSP00000375776.2:p.Val405Leu
ENST00000597339.5:n.247-5170G>T
ENST00000600646.5:n.247+7998G>T
NM_001039885.2:c.1213G>T NP_001034974.1:p.Val405Leu
NM_024301.4:c.1213G>T NP_077277.1:p.Val405Leu
XM_005259247.1:c.1213G>T XP_005259304.1:p.Val405Leu
XM_005259248.1:c.1213G>T XP_005259305.1:p.Val405Leu
XM_005259249.3:c.1213G>T XP_005259306.1:p.Val405Leu
XM_005259250.3:c.1213G>T XP_005259307.1:p.Val405Leu
XM_011527301.1:c.1213G>T XP_011525603.1:p.Val405Leu
XM_011527302.1:c.1213G>T XP_011525604.1:p.Val405Leu
XM_011527303.1:c.1213G>T XP_011525605.1:p.Val405Leu
XM_011527304.1:c.1213G>T XP_011525606.1:p.Val405Leu
XM_011527305.1:c.1213G>T XP_011525607.1:p.Val405Leu
XM_011527306.1:c.1213G>T XP_011525608.1:p.Val405Leu
XM_011527307.1:c.1213G>T XP_011525609.1:p.Val405Leu
XM_005259247.2:c.1213G>T XP_005259304.1:p.Val405Leu
XM_005259248.2:c.1213G>T XP_005259305.1:p.Val405Leu
XM_005259249.4:c.1213G>T XP_005259306.1:p.Val405Leu
XM_011527306.2:c.1213G>T XP_011525608.1:p.Val405Leu
XM_017027297.2:c.1213G>T XP_016882786.1:p.Val405Leu
XM_024451707.1:c.1213G>T XP_024307475.1:p.Val405Leu
NM_001039885.3:c.1213G>T NP_001034974.1:p.Val405Leu
NM_024301.5:c.1213G>T MANE Select NP_077277.1:p.Val405Leu
Search 100 bp 5'
Search 100 bp 3'