Canonical Allele Identifier: CA415193145
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352792A>G , CM000685.2:g.154352792A>G GRCh38
NC_000023.10:g.153581160A>G , CM000685.1:g.153581160A>G GRCh37
NC_000023.9:g.153234354A>G NCBI36
NG_011506.1:g.26847T>C
NG_011506.2:g.26847T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6335T>C ENSP00000353467.4:p.Phe2112Ser
ENST00000369850.10:c.6359T>C MANE Select ENSP00000358866.3:p.Phe2120Ser
ENST00000369856.8:c.6278T>C ENSP00000358872.4:p.Phe2093Ser
ENST00000422373.6:c.3161-117T>C ENSP00000416926.2:n.3161-117T>C
ENST00000610817.5:c.6416T>C ENSP00000480593.2:n.6416T>C
ENST00000673639.2:c.280-4102T>C
ENST00000676696.1:c.6638T>C ENSP00000503392.1:n.6638T>C
ENST00000678304.1:n.1538T>C
ENST00000344736.8:c.6239T>C ENSP00000358863.3:p.Phe2080Ser
ENST00000360319.8:c.6335T>C ENSP00000353467.4:p.Phe2112Ser
ENST00000369850.7:c.6359T>C ENSP00000358866.3:p.Phe2120Ser
ENST00000369856.7:c.6278T>C ENSP00000358872.4:p.Phe2093Ser
ENST00000415241.1:c.561T>C
ENST00000420627.5:c.6315T>C ENSP00000408921.1:n.6315T>C
ENST00000422373.5:c.6335T>C ENSP00000416926.1:p.Phe2112Ser
ENST00000444578.1:c.302T>C ENSP00000397824.1:p.Phe101Ser
ENST00000466325.1:n.574T>C
ENST00000490936.5:n.2348T>C
ENST00000498411.1:n.67+25T>C
ENST00000610817.4:c.5844+601T>C ENSP00000480593.1:n.5844+601T>C
NM_001110556.1:c.6359T>C NP_001104026.1:p.Phe2120Ser
NM_001456.3:c.6335T>C NP_001447.2:p.Phe2112Ser
XM_011531127.1:c.6263T>C XP_011529429.1:p.Phe2088Ser
XM_011531128.1:c.6239T>C XP_011529430.1:p.Phe2080Ser
XM_011531129.1:c.6185T>C XP_011529431.1:p.Phe2062Ser
XM_011531130.1:c.6161T>C XP_011529432.1:p.Phe2054Ser
XM_011531131.1:c.6158T>C XP_011529433.1:p.Phe2053Ser
NM_001110556.2:c.6359T>C MANE Select NP_001104026.1:p.Phe2120Ser
NM_001456.4:c.6335T>C NP_001447.2:p.Phe2112Ser