Canonical Allele Identifier: CA10654933
Gene: FLNA HGNC NCBI

Linked Data

ClinVar Variation Id: 369957
ClinVar RCV Id: RCV000408810
dbSNP Id: rs1057516198

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154359008G>A , CM000685.2:g.154359008G>A GRCh38
NC_000023.10:g.153587376G>A , CM000685.1:g.153587376G>A GRCh37
NC_000023.9:g.153240570G>A NCBI36
NG_011506.1:g.20631C>T
NG_011506.2:g.20631C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000360319.9:c.4450C>T ENSP00000353467.4:p.Gln1484Ter
ENST00000369850.10:c.4450C>T MANE Select ENSP00000358866.3:p.Gln1484Ter
ENST00000369856.8:c.4369C>T ENSP00000358872.4:p.Gln1457Ter
ENST00000422373.6:c.3160+2347C>T ENSP00000416926.2:n.3160+2347C>T
ENST00000610817.5:c.4507C>T ENSP00000480593.2:n.4507C>T
ENST00000673639.2:c.279+6428C>T
ENST00000676696.1:c.4729C>T ENSP00000503392.1:n.4729C>T
ENST00000678304.1:n.148+81C>T
ENST00000344736.8:c.4450C>T ENSP00000358863.3:p.Gln1484Ter
ENST00000360319.8:c.4450C>T ENSP00000353467.4:p.Gln1484Ter
ENST00000369850.7:c.4450C>T ENSP00000358866.3:p.Gln1484Ter
ENST00000369856.7:c.4369C>T ENSP00000358872.4:p.Gln1457Ter
ENST00000420627.5:c.4406C>T ENSP00000408921.1:n.4406C>T
ENST00000422373.5:c.4450C>T ENSP00000416926.1:p.Gln1484Ter
ENST00000490936.5:n.463C>T
ENST00000610817.4:c.4369C>T ENSP00000480593.1:p.Gln1457Ter
NM_001110556.1:c.4450C>T NP_001104026.1:p.Gln1484Ter
NM_001456.3:c.4450C>T NP_001447.2:p.Gln1484Ter
XM_011531127.1:c.4450C>T XP_011529429.1:p.Gln1484Ter
XM_011531128.1:c.4450C>T XP_011529430.1:p.Gln1484Ter
XM_011531129.1:c.4450C>T XP_011529431.1:p.Gln1484Ter
XM_011531130.1:c.4450C>T XP_011529432.1:p.Gln1484Ter
XM_011531131.1:c.4249C>T XP_011529433.1:p.Gln1417Ter
NM_001110556.2:c.4450C>T MANE Select NP_001104026.1:p.Gln1484Ter
NM_001456.4:c.4450C>T NP_001447.2:p.Gln1484Ter