Canonical Allele Identifier: CA415195117
Gene: FLNA HGNC NCBI

Linked Data

dbSNP Id: rs1265770821

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353021A>G , CM000685.2:g.154353021A>G GRCh38
NC_000023.10:g.153581389A>G , CM000685.1:g.153581389A>G GRCh37
NC_000023.9:g.153234583A>G NCBI36
NG_011506.1:g.26618T>C
NG_011506.2:g.26618T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6182T>C ENSP00000353467.4:p.Ile2061Thr
ENST00000369850.10:c.6206T>C MANE Select ENSP00000358866.3:p.Ile2069Thr
ENST00000369856.8:c.6125T>C ENSP00000358872.4:p.Ile2042Thr
ENST00000422373.6:c.3161-346T>C ENSP00000416926.2:n.3161-346T>C
ENST00000610817.5:c.6263T>C ENSP00000480593.2:n.6263T>C
ENST00000673639.2:c.280-4331T>C
ENST00000676696.1:c.6485T>C ENSP00000503392.1:n.6485T>C
ENST00000678304.1:n.1385T>C
ENST00000344736.8:c.6086T>C ENSP00000358863.3:p.Ile2029Thr
ENST00000360319.8:c.6182T>C ENSP00000353467.4:p.Ile2061Thr
ENST00000369850.7:c.6206T>C ENSP00000358866.3:p.Ile2069Thr
ENST00000369856.7:c.6125T>C ENSP00000358872.4:p.Ile2042Thr
ENST00000415241.1:c.408T>C
ENST00000420627.5:c.6162T>C ENSP00000408921.1:n.6162T>C
ENST00000422373.5:c.6182T>C ENSP00000416926.1:p.Ile2061Thr
ENST00000444578.1:c.149T>C ENSP00000397824.1:p.Ile50Thr
ENST00000466325.1:n.345T>C
ENST00000490936.5:n.2195T>C
ENST00000610817.4:c.5844+372T>C ENSP00000480593.1:n.5844+372T>C
NM_001110556.1:c.6206T>C NP_001104026.1:p.Ile2069Thr
NM_001456.3:c.6182T>C NP_001447.2:p.Ile2061Thr
XM_011531127.1:c.6110T>C XP_011529429.1:p.Ile2037Thr
XM_011531128.1:c.6086T>C XP_011529430.1:p.Ile2029Thr
XM_011531129.1:c.6032T>C XP_011529431.1:p.Ile2011Thr
XM_011531130.1:c.6008T>C XP_011529432.1:p.Ile2003Thr
XM_011531131.1:c.6005T>C XP_011529433.1:p.Ile2002Thr
NM_001110556.2:c.6206T>C MANE Select NP_001104026.1:p.Ile2069Thr
NM_001456.4:c.6182T>C NP_001447.2:p.Ile2061Thr