Canonical Allele Identifier: CA234009
Gene: FLNA HGNC NCBI

Linked Data

ClinVar Variation Id: 11772
ClinVar RCV Id: RCV000012538 RCV000012539 RCV000153245 RCV000560177
dbSNP Id: rs137853317
MyVariant Identifiers: chrX:g.153596246G>A (hg19) chrX:g.154367878G>A (hg38)
PubMed: PMID:15917206 PMID:17264970 PMID:23891399
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154367878G>A , CM000685.2:g.154367878G>A GRCh38
NC_000023.10:g.153596246G>A , CM000685.1:g.153596246G>A GRCh37
NC_000023.9:g.153249440G>A NCBI36
NG_011506.1:g.11761C>T
NG_011506.2:g.11761C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000360319.9:c.586C>T ENSP00000353467.4:p.Arg196Trp
ENST00000369850.10:c.586C>T MANE Select ENSP00000358866.3:p.Arg196Trp
ENST00000369856.8:c.505C>T ENSP00000358872.4:p.Arg169Trp
ENST00000422373.6:c.586C>T ENSP00000416926.2:p.Arg196Trp
ENST00000610817.5:c.586C>T ENSP00000480593.2:p.Arg196Trp
ENST00000676696.1:c.586C>T ENSP00000503392.1:p.Arg196Trp
ENST00000344736.8:c.586C>T ENSP00000358863.3:p.Arg196Trp
ENST00000360319.8:c.586C>T ENSP00000353467.4:p.Arg196Trp
ENST00000369850.7:c.586C>T ENSP00000358866.3:p.Arg196Trp
ENST00000369856.7:c.505C>T ENSP00000358872.4:p.Arg169Trp
ENST00000420627.5:c.544C>T ENSP00000408921.1:p.Arg182Trp
ENST00000422373.5:c.586C>T ENSP00000416926.1:p.Arg196Trp
ENST00000610817.4:c.505C>T ENSP00000480593.1:p.Arg169Trp
NM_001110556.1:c.586C>T NP_001104026.1:p.Arg196Trp
NM_001456.3:c.586C>T NP_001447.2:p.Arg196Trp
XM_011531127.1:c.586C>T XP_011529429.1:p.Arg196Trp
XM_011531128.1:c.586C>T XP_011529430.1:p.Arg196Trp
XM_011531129.1:c.586C>T XP_011529431.1:p.Arg196Trp
XM_011531130.1:c.586C>T XP_011529432.1:p.Arg196Trp
XM_011531131.1:c.586C>T XP_011529433.1:p.Arg196Trp
NM_001110556.2:c.586C>T MANE Select NP_001104026.1:p.Arg196Trp
NM_001456.4:c.586C>T NP_001447.2:p.Arg196Trp
Search 100 bp 5'
Search 100 bp 3'