Canonical Allele Identifier: CA415194227
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352877T>G , CM000685.2:g.154352877T>G GRCh38
NC_000023.10:g.153581245T>G , CM000685.1:g.153581245T>G GRCh37
NC_000023.9:g.153234439T>G NCBI36
NG_011506.1:g.26762A>C
NG_011506.2:g.26762A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6250A>C ENSP00000353467.4:p.Ile2084Leu
ENST00000369850.10:c.6274A>C MANE Select ENSP00000358866.3:p.Ile2092Leu
ENST00000369856.8:c.6193A>C ENSP00000358872.4:p.Ile2065Leu
ENST00000422373.6:c.3161-202A>C ENSP00000416926.2:n.3161-202A>C
ENST00000610817.5:c.6331A>C ENSP00000480593.2:n.6331A>C
ENST00000673639.2:c.280-4187A>C
ENST00000676696.1:c.6553A>C ENSP00000503392.1:n.6553A>C
ENST00000678304.1:n.1453A>C
ENST00000344736.8:c.6154A>C ENSP00000358863.3:p.Ile2052Leu
ENST00000360319.8:c.6250A>C ENSP00000353467.4:p.Ile2084Leu
ENST00000369850.7:c.6274A>C ENSP00000358866.3:p.Ile2092Leu
ENST00000369856.7:c.6193A>C ENSP00000358872.4:p.Ile2065Leu
ENST00000415241.1:c.476A>C
ENST00000420627.5:c.6230A>C ENSP00000408921.1:n.6230A>C
ENST00000422373.5:c.6250A>C ENSP00000416926.1:p.Ile2084Leu
ENST00000444578.1:c.217A>C ENSP00000397824.1:p.Ile73Leu
ENST00000466325.1:n.489A>C
ENST00000490936.5:n.2263A>C
ENST00000498411.1:n.7A>C
ENST00000610817.4:c.5844+516A>C ENSP00000480593.1:n.5844+516A>C
NM_001110556.1:c.6274A>C NP_001104026.1:p.Ile2092Leu
NM_001456.3:c.6250A>C NP_001447.2:p.Ile2084Leu
XM_011531127.1:c.6178A>C XP_011529429.1:p.Ile2060Leu
XM_011531128.1:c.6154A>C XP_011529430.1:p.Ile2052Leu
XM_011531129.1:c.6100A>C XP_011529431.1:p.Ile2034Leu
XM_011531130.1:c.6076A>C XP_011529432.1:p.Ile2026Leu
XM_011531131.1:c.6073A>C XP_011529433.1:p.Ile2025Leu
NM_001110556.2:c.6274A>C MANE Select NP_001104026.1:p.Ile2092Leu
NM_001456.4:c.6250A>C NP_001447.2:p.Ile2084Leu