Canonical Allele Identifier: CA415196148
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353131G>C , CM000685.2:g.154353131G>C GRCh38
NC_000023.10:g.153581499G>C , CM000685.1:g.153581499G>C GRCh37
NC_000023.9:g.153234693G>C NCBI36
NG_011506.1:g.26508C>G
NG_011506.2:g.26508C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6072C>G ENSP00000353467.4:p.Ser2024Arg
ENST00000369850.10:c.6096C>G MANE Select ENSP00000358866.3:p.Ser2032Arg
ENST00000369856.8:c.6015C>G ENSP00000358872.4:p.Ser2005Arg
ENST00000422373.6:c.3161-456C>G ENSP00000416926.2:n.3161-456C>G
ENST00000610817.5:c.6153C>G ENSP00000480593.2:n.6153C>G
ENST00000673639.2:c.280-4441C>G
ENST00000676696.1:c.6375C>G ENSP00000503392.1:n.6375C>G
ENST00000678304.1:n.1275C>G
ENST00000344736.8:c.5976C>G ENSP00000358863.3:p.Ser1992Arg
ENST00000360319.8:c.6072C>G ENSP00000353467.4:p.Ser2024Arg
ENST00000369850.7:c.6096C>G ENSP00000358866.3:p.Ser2032Arg
ENST00000369856.7:c.6015C>G ENSP00000358872.4:p.Ser2005Arg
ENST00000415241.1:c.298C>G
ENST00000420627.5:c.6052C>G ENSP00000408921.1:n.6052C>G
ENST00000422373.5:c.6072C>G ENSP00000416926.1:p.Ser2024Arg
ENST00000444578.1:c.39C>G ENSP00000397824.1:p.Ser13Arg
ENST00000466325.1:n.235C>G
ENST00000490936.5:n.2085C>G
ENST00000610817.4:c.5844+262C>G ENSP00000480593.1:n.5844+262C>G
NM_001110556.1:c.6096C>G NP_001104026.1:p.Ser2032Arg
NM_001456.3:c.6072C>G NP_001447.2:p.Ser2024Arg
XM_011531127.1:c.6000C>G XP_011529429.1:p.Ser2000Arg
XM_011531128.1:c.5976C>G XP_011529430.1:p.Ser1992Arg
XM_011531129.1:c.5922C>G XP_011529431.1:p.Ser1974Arg
XM_011531130.1:c.5898C>G XP_011529432.1:p.Ser1966Arg
XM_011531131.1:c.5895C>G XP_011529433.1:p.Ser1965Arg
NM_001110556.2:c.6096C>G MANE Select NP_001104026.1:p.Ser2032Arg
NM_001456.4:c.6072C>G NP_001447.2:p.Ser2024Arg