Canonical Allele Identifier: CA415193694
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352840A>G , CM000685.2:g.154352840A>G GRCh38
NC_000023.10:g.153581208A>G , CM000685.1:g.153581208A>G GRCh37
NC_000023.9:g.153234402A>G NCBI36
NG_011506.1:g.26799T>C
NG_011506.2:g.26799T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6287T>C ENSP00000353467.4:p.Val2096Ala
ENST00000369850.10:c.6311T>C MANE Select ENSP00000358866.3:p.Val2104Ala
ENST00000369856.8:c.6230T>C ENSP00000358872.4:p.Val2077Ala
ENST00000422373.6:c.3161-165T>C ENSP00000416926.2:n.3161-165T>C
ENST00000610817.5:c.6368T>C ENSP00000480593.2:n.6368T>C
ENST00000673639.2:c.280-4150T>C
ENST00000676696.1:c.6590T>C ENSP00000503392.1:n.6590T>C
ENST00000678304.1:n.1490T>C
ENST00000344736.8:c.6191T>C ENSP00000358863.3:p.Val2064Ala
ENST00000360319.8:c.6287T>C ENSP00000353467.4:p.Val2096Ala
ENST00000369850.7:c.6311T>C ENSP00000358866.3:p.Val2104Ala
ENST00000369856.7:c.6230T>C ENSP00000358872.4:p.Val2077Ala
ENST00000415241.1:c.513T>C
ENST00000420627.5:c.6267T>C ENSP00000408921.1:n.6267T>C
ENST00000422373.5:c.6287T>C ENSP00000416926.1:p.Val2096Ala
ENST00000444578.1:c.254T>C ENSP00000397824.1:p.Val85Ala
ENST00000466325.1:n.526T>C
ENST00000490936.5:n.2300T>C
ENST00000498411.1:n.44T>C
ENST00000610817.4:c.5844+553T>C ENSP00000480593.1:n.5844+553T>C
NM_001110556.1:c.6311T>C NP_001104026.1:p.Val2104Ala
NM_001456.3:c.6287T>C NP_001447.2:p.Val2096Ala
XM_011531127.1:c.6215T>C XP_011529429.1:p.Val2072Ala
XM_011531128.1:c.6191T>C XP_011529430.1:p.Val2064Ala
XM_011531129.1:c.6137T>C XP_011529431.1:p.Val2046Ala
XM_011531130.1:c.6113T>C XP_011529432.1:p.Val2038Ala
XM_011531131.1:c.6110T>C XP_011529433.1:p.Val2037Ala
NM_001110556.2:c.6311T>C MANE Select NP_001104026.1:p.Val2104Ala
NM_001456.4:c.6287T>C NP_001447.2:p.Val2096Ala