Canonical Allele Identifier: CA337274990
Gene: FLNA HGNC NCBI

Linked Data

dbSNP Id: rs981005441

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352891G>A , CM000685.2:g.154352891G>A GRCh38
NC_000023.10:g.153581259G>A , CM000685.1:g.153581259G>A GRCh37
NC_000023.9:g.153234453G>A NCBI36
NG_011506.1:g.26748C>T
NG_011506.2:g.26748C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6236C>T ENSP00000353467.4:p.Pro2079Leu
ENST00000369850.10:c.6260C>T MANE Select ENSP00000358866.3:p.Pro2087Leu
ENST00000369856.8:c.6179C>T ENSP00000358872.4:p.Pro2060Leu
ENST00000422373.6:c.3161-216C>T ENSP00000416926.2:n.3161-216C>T
ENST00000610817.5:c.6317C>T ENSP00000480593.2:n.6317C>T
ENST00000673639.2:c.280-4201C>T
ENST00000676696.1:c.6539C>T ENSP00000503392.1:n.6539C>T
ENST00000678304.1:n.1439C>T
ENST00000344736.8:c.6140C>T ENSP00000358863.3:p.Pro2047Leu
ENST00000360319.8:c.6236C>T ENSP00000353467.4:p.Pro2079Leu
ENST00000369850.7:c.6260C>T ENSP00000358866.3:p.Pro2087Leu
ENST00000369856.7:c.6179C>T ENSP00000358872.4:p.Pro2060Leu
ENST00000415241.1:c.462C>T
ENST00000420627.5:c.6216C>T ENSP00000408921.1:n.6216C>T
ENST00000422373.5:c.6236C>T ENSP00000416926.1:p.Pro2079Leu
ENST00000444578.1:c.203C>T ENSP00000397824.1:p.Pro68Leu
ENST00000466325.1:n.475C>T
ENST00000490936.5:n.2249C>T
ENST00000610817.4:c.5844+502C>T ENSP00000480593.1:n.5844+502C>T
NM_001110556.1:c.6260C>T NP_001104026.1:p.Pro2087Leu
NM_001456.3:c.6236C>T NP_001447.2:p.Pro2079Leu
XM_011531127.1:c.6164C>T XP_011529429.1:p.Pro2055Leu
XM_011531128.1:c.6140C>T XP_011529430.1:p.Pro2047Leu
XM_011531129.1:c.6086C>T XP_011529431.1:p.Pro2029Leu
XM_011531130.1:c.6062C>T XP_011529432.1:p.Pro2021Leu
XM_011531131.1:c.6059C>T XP_011529433.1:p.Pro2020Leu
NM_001110556.2:c.6260C>T MANE Select NP_001104026.1:p.Pro2087Leu
NM_001456.4:c.6236C>T NP_001447.2:p.Pro2079Leu