Canonical Allele Identifier: CA415194386
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352889T>G , CM000685.2:g.154352889T>G GRCh38
NC_000023.10:g.153581257T>G , CM000685.1:g.153581257T>G GRCh37
NC_000023.9:g.153234451T>G NCBI36
NG_011506.1:g.26750A>C
NG_011506.2:g.26750A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6238A>C ENSP00000353467.4:p.Ser2080Arg
ENST00000369850.10:c.6262A>C MANE Select ENSP00000358866.3:p.Ser2088Arg
ENST00000369856.8:c.6181A>C ENSP00000358872.4:p.Ser2061Arg
ENST00000422373.6:c.3161-214A>C ENSP00000416926.2:n.3161-214A>C
ENST00000610817.5:c.6319A>C ENSP00000480593.2:n.6319A>C
ENST00000673639.2:c.280-4199A>C
ENST00000676696.1:c.6541A>C ENSP00000503392.1:n.6541A>C
ENST00000678304.1:n.1441A>C
ENST00000344736.8:c.6142A>C ENSP00000358863.3:p.Ser2048Arg
ENST00000360319.8:c.6238A>C ENSP00000353467.4:p.Ser2080Arg
ENST00000369850.7:c.6262A>C ENSP00000358866.3:p.Ser2088Arg
ENST00000369856.7:c.6181A>C ENSP00000358872.4:p.Ser2061Arg
ENST00000415241.1:c.464A>C
ENST00000420627.5:c.6218A>C ENSP00000408921.1:n.6218A>C
ENST00000422373.5:c.6238A>C ENSP00000416926.1:p.Ser2080Arg
ENST00000444578.1:c.205A>C ENSP00000397824.1:p.Ser69Arg
ENST00000466325.1:n.477A>C
ENST00000490936.5:n.2251A>C
ENST00000610817.4:c.5844+504A>C ENSP00000480593.1:n.5844+504A>C
NM_001110556.1:c.6262A>C NP_001104026.1:p.Ser2088Arg
NM_001456.3:c.6238A>C NP_001447.2:p.Ser2080Arg
XM_011531127.1:c.6166A>C XP_011529429.1:p.Ser2056Arg
XM_011531128.1:c.6142A>C XP_011529430.1:p.Ser2048Arg
XM_011531129.1:c.6088A>C XP_011529431.1:p.Ser2030Arg
XM_011531130.1:c.6064A>C XP_011529432.1:p.Ser2022Arg
XM_011531131.1:c.6061A>C XP_011529433.1:p.Ser2021Arg
NM_001110556.2:c.6262A>C MANE Select NP_001104026.1:p.Ser2088Arg
NM_001456.4:c.6238A>C NP_001447.2:p.Ser2080Arg