Canonical Allele Identifier: CA415233589
Gene: FLNA HGNC NCBI

Linked Data

ClinVar Variation Id: 2064061
dbSNP Id: rs2067718143

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154362310C>T , CM000685.2:g.154362310C>T GRCh38
NC_000023.10:g.153590678C>T , CM000685.1:g.153590678C>T GRCh37
NC_000023.9:g.153243872C>T NCBI36
NG_011506.1:g.17329G>A
NG_011506.2:g.17329G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.2588G>A ENSP00000353467.4:p.Arg863Gln
ENST00000369850.10:c.2588G>A MANE Select ENSP00000358866.3:p.Arg863Gln
ENST00000369856.8:c.2507G>A ENSP00000358872.4:p.Arg836Gln
ENST00000422373.6:c.2588G>A ENSP00000416926.2:p.Arg863Gln
ENST00000610817.5:c.2645G>A ENSP00000480593.2:n.2645G>A
ENST00000673639.2:c.279+3126G>A
ENST00000676696.1:c.2867G>A ENSP00000503392.1:n.2867G>A
ENST00000344736.8:c.2588G>A ENSP00000358863.3:p.Arg863Gln
ENST00000360319.8:c.2588G>A ENSP00000353467.4:p.Arg863Gln
ENST00000369850.7:c.2588G>A ENSP00000358866.3:p.Arg863Gln
ENST00000369856.7:c.2507G>A ENSP00000358872.4:p.Arg836Gln
ENST00000420627.5:c.2544G>A ENSP00000408921.1:n.2544G>A
ENST00000422373.5:c.2588G>A ENSP00000416926.1:p.Arg863Gln
ENST00000610817.4:c.2507G>A ENSP00000480593.1:p.Arg836Gln
NM_001110556.1:c.2588G>A NP_001104026.1:p.Arg863Gln
NM_001456.3:c.2588G>A NP_001447.2:p.Arg863Gln
XM_011531127.1:c.2588G>A XP_011529429.1:p.Arg863Gln
XM_011531128.1:c.2588G>A XP_011529430.1:p.Arg863Gln
XM_011531129.1:c.2588G>A XP_011529431.1:p.Arg863Gln
XM_011531130.1:c.2588G>A XP_011529432.1:p.Arg863Gln
XM_011531131.1:c.2387G>A XP_011529433.1:p.Arg796Gln
NM_001110556.2:c.2588G>A MANE Select NP_001104026.1:p.Arg863Gln
NM_001456.4:c.2588G>A NP_001447.2:p.Arg863Gln