Canonical Allele Identifier: CA415193150
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352793A>G , CM000685.2:g.154352793A>G GRCh38
NC_000023.10:g.153581161A>G , CM000685.1:g.153581161A>G GRCh37
NC_000023.9:g.153234355A>G NCBI36
NG_011506.1:g.26846T>C
NG_011506.2:g.26846T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6334T>C ENSP00000353467.4:p.Phe2112Leu
ENST00000369850.10:c.6358T>C MANE Select ENSP00000358866.3:p.Phe2120Leu
ENST00000369856.8:c.6277T>C ENSP00000358872.4:p.Phe2093Leu
ENST00000422373.6:c.3161-118T>C ENSP00000416926.2:n.3161-118T>C
ENST00000610817.5:c.6415T>C ENSP00000480593.2:n.6415T>C
ENST00000673639.2:c.280-4103T>C
ENST00000676696.1:c.6637T>C ENSP00000503392.1:n.6637T>C
ENST00000678304.1:n.1537T>C
ENST00000344736.8:c.6238T>C ENSP00000358863.3:p.Phe2080Leu
ENST00000360319.8:c.6334T>C ENSP00000353467.4:p.Phe2112Leu
ENST00000369850.7:c.6358T>C ENSP00000358866.3:p.Phe2120Leu
ENST00000369856.7:c.6277T>C ENSP00000358872.4:p.Phe2093Leu
ENST00000415241.1:c.560T>C
ENST00000420627.5:c.6314T>C ENSP00000408921.1:n.6314T>C
ENST00000422373.5:c.6334T>C ENSP00000416926.1:p.Phe2112Leu
ENST00000444578.1:c.301T>C ENSP00000397824.1:p.Phe101Leu
ENST00000466325.1:n.573T>C
ENST00000490936.5:n.2347T>C
ENST00000498411.1:n.67+24T>C
ENST00000610817.4:c.5844+600T>C ENSP00000480593.1:n.5844+600T>C
NM_001110556.1:c.6358T>C NP_001104026.1:p.Phe2120Leu
NM_001456.3:c.6334T>C NP_001447.2:p.Phe2112Leu
XM_011531127.1:c.6262T>C XP_011529429.1:p.Phe2088Leu
XM_011531128.1:c.6238T>C XP_011529430.1:p.Phe2080Leu
XM_011531129.1:c.6184T>C XP_011529431.1:p.Phe2062Leu
XM_011531130.1:c.6160T>C XP_011529432.1:p.Phe2054Leu
XM_011531131.1:c.6157T>C XP_011529433.1:p.Phe2053Leu
NM_001110556.2:c.6358T>C MANE Select NP_001104026.1:p.Phe2120Leu
NM_001456.4:c.6334T>C NP_001447.2:p.Phe2112Leu