Canonical Allele Identifier: CA415193175
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352795T>G , CM000685.2:g.154352795T>G GRCh38
NC_000023.10:g.153581163T>G , CM000685.1:g.153581163T>G GRCh37
NC_000023.9:g.153234357T>G NCBI36
NG_011506.1:g.26844A>C
NG_011506.2:g.26844A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6332A>C ENSP00000353467.4:p.Lys2111Thr
ENST00000369850.10:c.6356A>C MANE Select ENSP00000358866.3:p.Lys2119Thr
ENST00000369856.8:c.6275A>C ENSP00000358872.4:p.Lys2092Thr
ENST00000422373.6:c.3161-120A>C ENSP00000416926.2:n.3161-120A>C
ENST00000610817.5:c.6413A>C ENSP00000480593.2:n.6413A>C
ENST00000673639.2:c.280-4105A>C
ENST00000676696.1:c.6635A>C ENSP00000503392.1:n.6635A>C
ENST00000678304.1:n.1535A>C
ENST00000344736.8:c.6236A>C ENSP00000358863.3:p.Lys2079Thr
ENST00000360319.8:c.6332A>C ENSP00000353467.4:p.Lys2111Thr
ENST00000369850.7:c.6356A>C ENSP00000358866.3:p.Lys2119Thr
ENST00000369856.7:c.6275A>C ENSP00000358872.4:p.Lys2092Thr
ENST00000415241.1:c.558A>C
ENST00000420627.5:c.6312A>C ENSP00000408921.1:n.6312A>C
ENST00000422373.5:c.6332A>C ENSP00000416926.1:p.Lys2111Thr
ENST00000444578.1:c.299A>C ENSP00000397824.1:p.Lys100Thr
ENST00000466325.1:n.571A>C
ENST00000490936.5:n.2345A>C
ENST00000498411.1:n.67+22A>C
ENST00000610817.4:c.5844+598A>C ENSP00000480593.1:n.5844+598A>C
NM_001110556.1:c.6356A>C NP_001104026.1:p.Lys2119Thr
NM_001456.3:c.6332A>C NP_001447.2:p.Lys2111Thr
XM_011531127.1:c.6260A>C XP_011529429.1:p.Lys2087Thr
XM_011531128.1:c.6236A>C XP_011529430.1:p.Lys2079Thr
XM_011531129.1:c.6182A>C XP_011529431.1:p.Lys2061Thr
XM_011531130.1:c.6158A>C XP_011529432.1:p.Lys2053Thr
XM_011531131.1:c.6155A>C XP_011529433.1:p.Lys2052Thr
NM_001110556.2:c.6356A>C MANE Select NP_001104026.1:p.Lys2119Thr
NM_001456.4:c.6332A>C NP_001447.2:p.Lys2111Thr