Canonical Allele Identifier: CA415216627
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154359050A>G , CM000685.2:g.154359050A>G GRCh38
NC_000023.10:g.153587418A>G , CM000685.1:g.153587418A>G GRCh37
NC_000023.9:g.153240612A>G NCBI36
NG_011506.1:g.20589T>C
NG_011506.2:g.20589T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.4408T>C ENSP00000353467.4:p.Ser1470Pro
ENST00000369850.10:c.4408T>C MANE Select ENSP00000358866.3:p.Ser1470Pro
ENST00000369856.8:c.4327T>C ENSP00000358872.4:p.Ser1443Pro
ENST00000422373.6:c.3160+2305T>C ENSP00000416926.2:n.3160+2305T>C
ENST00000610817.5:c.4465T>C ENSP00000480593.2:n.4465T>C
ENST00000673639.2:c.279+6386T>C
ENST00000676696.1:c.4687T>C ENSP00000503392.1:n.4687T>C
ENST00000678304.1:n.148+39T>C
ENST00000344736.8:c.4408T>C ENSP00000358863.3:p.Ser1470Pro
ENST00000360319.8:c.4408T>C ENSP00000353467.4:p.Ser1470Pro
ENST00000369850.7:c.4408T>C ENSP00000358866.3:p.Ser1470Pro
ENST00000369856.7:c.4327T>C ENSP00000358872.4:p.Ser1443Pro
ENST00000420627.5:c.4364T>C ENSP00000408921.1:n.4364T>C
ENST00000422373.5:c.4408T>C ENSP00000416926.1:p.Ser1470Pro
ENST00000490936.5:n.421T>C
ENST00000610817.4:c.4327T>C ENSP00000480593.1:p.Ser1443Pro
NM_001110556.1:c.4408T>C NP_001104026.1:p.Ser1470Pro
NM_001456.3:c.4408T>C NP_001447.2:p.Ser1470Pro
XM_011531127.1:c.4408T>C XP_011529429.1:p.Ser1470Pro
XM_011531128.1:c.4408T>C XP_011529430.1:p.Ser1470Pro
XM_011531129.1:c.4408T>C XP_011529431.1:p.Ser1470Pro
XM_011531130.1:c.4408T>C XP_011529432.1:p.Ser1470Pro
XM_011531131.1:c.4207T>C XP_011529433.1:p.Ser1403Pro
NM_001110556.2:c.4408T>C MANE Select NP_001104026.1:p.Ser1470Pro
NM_001456.4:c.4408T>C NP_001447.2:p.Ser1470Pro