Canonical Allele Identifier: CA415193848
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352849G>T , CM000685.2:g.154352849G>T GRCh38
NC_000023.10:g.153581217G>T , CM000685.1:g.153581217G>T GRCh37
NC_000023.9:g.153234411G>T NCBI36
NG_011506.1:g.26790C>A
NG_011506.2:g.26790C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6278C>A ENSP00000353467.4:p.Thr2093Lys
ENST00000369850.10:c.6302C>A MANE Select ENSP00000358866.3:p.Thr2101Lys
ENST00000369856.8:c.6221C>A ENSP00000358872.4:p.Thr2074Lys
ENST00000422373.6:c.3161-174C>A ENSP00000416926.2:n.3161-174C>A
ENST00000610817.5:c.6359C>A ENSP00000480593.2:n.6359C>A
ENST00000673639.2:c.280-4159C>A
ENST00000676696.1:c.6581C>A ENSP00000503392.1:n.6581C>A
ENST00000678304.1:n.1481C>A
ENST00000344736.8:c.6182C>A ENSP00000358863.3:p.Thr2061Lys
ENST00000360319.8:c.6278C>A ENSP00000353467.4:p.Thr2093Lys
ENST00000369850.7:c.6302C>A ENSP00000358866.3:p.Thr2101Lys
ENST00000369856.7:c.6221C>A ENSP00000358872.4:p.Thr2074Lys
ENST00000415241.1:c.504C>A
ENST00000420627.5:c.6258C>A ENSP00000408921.1:n.6258C>A
ENST00000422373.5:c.6278C>A ENSP00000416926.1:p.Thr2093Lys
ENST00000444578.1:c.245C>A ENSP00000397824.1:p.Thr82Lys
ENST00000466325.1:n.517C>A
ENST00000490936.5:n.2291C>A
ENST00000498411.1:n.35C>A
ENST00000610817.4:c.5844+544C>A ENSP00000480593.1:n.5844+544C>A
NM_001110556.1:c.6302C>A NP_001104026.1:p.Thr2101Lys
NM_001456.3:c.6278C>A NP_001447.2:p.Thr2093Lys
XM_011531127.1:c.6206C>A XP_011529429.1:p.Thr2069Lys
XM_011531128.1:c.6182C>A XP_011529430.1:p.Thr2061Lys
XM_011531129.1:c.6128C>A XP_011529431.1:p.Thr2043Lys
XM_011531130.1:c.6104C>A XP_011529432.1:p.Thr2035Lys
XM_011531131.1:c.6101C>A XP_011529433.1:p.Thr2034Lys
NM_001110556.2:c.6302C>A MANE Select NP_001104026.1:p.Thr2101Lys
NM_001456.4:c.6278C>A NP_001447.2:p.Thr2093Lys