Canonical Allele Identifier: CA337274992
Gene: FLNA HGNC NCBI

Linked Data

ClinVar Variation Id: 1553959
dbSNP Id: rs926782014

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352905C>T , CM000685.2:g.154352905C>T GRCh38
NC_000023.10:g.153581273C>T , CM000685.1:g.153581273C>T GRCh37
NC_000023.9:g.153234467C>T NCBI36
NG_011506.1:g.26734G>A
NG_011506.2:g.26734G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6222G>A ENSP00000353467.4:p.Leu2074=
ENST00000369850.10:c.6246G>A MANE Select ENSP00000358866.3:p.Leu2082=
ENST00000369856.8:c.6165G>A ENSP00000358872.4:p.Leu2055=
ENST00000422373.6:c.3161-230G>A ENSP00000416926.2:n.3161-230G>A
ENST00000610817.5:c.6303G>A ENSP00000480593.2:n.6303G>A
ENST00000673639.2:c.280-4215G>A
ENST00000676696.1:c.6525G>A ENSP00000503392.1:n.6525G>A
ENST00000678304.1:n.1425G>A
ENST00000344736.8:c.6126G>A ENSP00000358863.3:p.Leu2042=
ENST00000360319.8:c.6222G>A ENSP00000353467.4:p.Leu2074=
ENST00000369850.7:c.6246G>A ENSP00000358866.3:p.Leu2082=
ENST00000369856.7:c.6165G>A ENSP00000358872.4:p.Leu2055=
ENST00000415241.1:c.448G>A
ENST00000420627.5:c.6202G>A ENSP00000408921.1:n.6202G>A
ENST00000422373.5:c.6222G>A ENSP00000416926.1:p.Leu2074=
ENST00000444578.1:c.189G>A ENSP00000397824.1:p.Leu63=
ENST00000466325.1:n.461G>A
ENST00000490936.5:n.2235G>A
ENST00000610817.4:c.5844+488G>A ENSP00000480593.1:n.5844+488G>A
NM_001110556.1:c.6246G>A NP_001104026.1:p.Leu2082=
NM_001456.3:c.6222G>A NP_001447.2:p.Leu2074=
XM_011531127.1:c.6150G>A XP_011529429.1:p.Leu2050=
XM_011531128.1:c.6126G>A XP_011529430.1:p.Leu2042=
XM_011531129.1:c.6072G>A XP_011529431.1:p.Leu2024=
XM_011531130.1:c.6048G>A XP_011529432.1:p.Leu2016=
XM_011531131.1:c.6045G>A XP_011529433.1:p.Leu2015=
NM_001110556.2:c.6246G>A MANE Select NP_001104026.1:p.Leu2082=
NM_001456.4:c.6222G>A NP_001447.2:p.Leu2074=