Canonical Allele Identifier: CA415195407
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353043T>A , CM000685.2:g.154353043T>A GRCh38
NC_000023.10:g.153581411T>A , CM000685.1:g.153581411T>A GRCh37
NC_000023.9:g.153234605T>A NCBI36
NG_011506.1:g.26596A>T
NG_011506.2:g.26596A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6160A>T ENSP00000353467.4:p.Thr2054Ser
ENST00000369850.10:c.6184A>T MANE Select ENSP00000358866.3:p.Thr2062Ser
ENST00000369856.8:c.6103A>T ENSP00000358872.4:p.Thr2035Ser
ENST00000422373.6:c.3161-368A>T ENSP00000416926.2:n.3161-368A>T
ENST00000610817.5:c.6241A>T ENSP00000480593.2:n.6241A>T
ENST00000673639.2:c.280-4353A>T
ENST00000676696.1:c.6463A>T ENSP00000503392.1:n.6463A>T
ENST00000678304.1:n.1363A>T
ENST00000344736.8:c.6064A>T ENSP00000358863.3:p.Thr2022Ser
ENST00000360319.8:c.6160A>T ENSP00000353467.4:p.Thr2054Ser
ENST00000369850.7:c.6184A>T ENSP00000358866.3:p.Thr2062Ser
ENST00000369856.7:c.6103A>T ENSP00000358872.4:p.Thr2035Ser
ENST00000415241.1:c.386A>T
ENST00000420627.5:c.6140A>T ENSP00000408921.1:n.6140A>T
ENST00000422373.5:c.6160A>T ENSP00000416926.1:p.Thr2054Ser
ENST00000444578.1:c.127A>T ENSP00000397824.1:p.Thr43Ser
ENST00000466325.1:n.323A>T
ENST00000490936.5:n.2173A>T
ENST00000610817.4:c.5844+350A>T ENSP00000480593.1:n.5844+350A>T
NM_001110556.1:c.6184A>T NP_001104026.1:p.Thr2062Ser
NM_001456.3:c.6160A>T NP_001447.2:p.Thr2054Ser
XM_011531127.1:c.6088A>T XP_011529429.1:p.Thr2030Ser
XM_011531128.1:c.6064A>T XP_011529430.1:p.Thr2022Ser
XM_011531129.1:c.6010A>T XP_011529431.1:p.Thr2004Ser
XM_011531130.1:c.5986A>T XP_011529432.1:p.Thr1996Ser
XM_011531131.1:c.5983A>T XP_011529433.1:p.Thr1995Ser
NM_001110556.2:c.6184A>T MANE Select NP_001104026.1:p.Thr2062Ser
NM_001456.4:c.6160A>T NP_001447.2:p.Thr2054Ser