Canonical Allele Identifier: CA221728
Gene: FLNA HGNC NCBI

Linked Data

ClinVar Variation Id: 11756
ClinVar RCV Id: RCV000012522 RCV000178843 RCV001851804
dbSNP Id: rs28935470
MyVariant Identifiers: chrX:g.153595873C>T (hg19) chrX:g.154367505C>T (hg38)
PubMed: PMID:15917206 PMID:19773341 PMID:23891399
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154367505C>T , CM000685.2:g.154367505C>T GRCh38
NC_000023.10:g.153595873C>T , CM000685.1:g.153595873C>T GRCh37
NC_000023.9:g.153249067C>T NCBI36
NG_011506.1:g.12134G>A
NG_011506.2:g.12134G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.760G>A ENSP00000353467.4:p.Glu254Lys
ENST00000369850.10:c.760G>A MANE Select ENSP00000358866.3:p.Glu254Lys
ENST00000369856.8:c.679G>A ENSP00000358872.4:p.Glu227Lys
ENST00000422373.6:c.760G>A ENSP00000416926.2:p.Glu254Lys
ENST00000610817.5:c.760G>A ENSP00000480593.2:p.Glu254Lys
ENST00000676696.1:c.760G>A ENSP00000503392.1:p.Glu254Lys
ENST00000344736.8:c.760G>A ENSP00000358863.3:p.Glu254Lys
ENST00000360319.8:c.760G>A ENSP00000353467.4:p.Glu254Lys
ENST00000369850.7:c.760G>A ENSP00000358866.3:p.Glu254Lys
ENST00000369856.7:c.679G>A ENSP00000358872.4:p.Glu227Lys
ENST00000420627.5:c.718G>A ENSP00000408921.1:p.Glu240Lys
ENST00000422373.5:c.760G>A ENSP00000416926.1:p.Glu254Lys
ENST00000610817.4:c.679G>A ENSP00000480593.1:p.Glu227Lys
NM_001110556.1:c.760G>A NP_001104026.1:p.Glu254Lys
NM_001456.3:c.760G>A NP_001447.2:p.Glu254Lys
XM_011531127.1:c.760G>A XP_011529429.1:p.Glu254Lys
XM_011531128.1:c.760G>A XP_011529430.1:p.Glu254Lys
XM_011531129.1:c.760G>A XP_011529431.1:p.Glu254Lys
XM_011531130.1:c.760G>A XP_011529432.1:p.Glu254Lys
XM_011531131.1:c.760G>A XP_011529433.1:p.Glu254Lys
NM_001110556.2:c.760G>A MANE Select NP_001104026.1:p.Glu254Lys
NM_001456.4:c.760G>A NP_001447.2:p.Glu254Lys
Search 100 bp 5'
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