Canonical Allele Identifier: CA415195104
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353019T>G , CM000685.2:g.154353019T>G GRCh38
NC_000023.10:g.153581387T>G , CM000685.1:g.153581387T>G GRCh37
NC_000023.9:g.153234581T>G NCBI36
NG_011506.1:g.26620A>C
NG_011506.2:g.26620A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6184A>C ENSP00000353467.4:p.Ile2062Leu
ENST00000369850.10:c.6208A>C MANE Select ENSP00000358866.3:p.Ile2070Leu
ENST00000369856.8:c.6127A>C ENSP00000358872.4:p.Ile2043Leu
ENST00000422373.6:c.3161-344A>C ENSP00000416926.2:n.3161-344A>C
ENST00000610817.5:c.6265A>C ENSP00000480593.2:n.6265A>C
ENST00000673639.2:c.280-4329A>C
ENST00000676696.1:c.6487A>C ENSP00000503392.1:n.6487A>C
ENST00000678304.1:n.1387A>C
ENST00000344736.8:c.6088A>C ENSP00000358863.3:p.Ile2030Leu
ENST00000360319.8:c.6184A>C ENSP00000353467.4:p.Ile2062Leu
ENST00000369850.7:c.6208A>C ENSP00000358866.3:p.Ile2070Leu
ENST00000369856.7:c.6127A>C ENSP00000358872.4:p.Ile2043Leu
ENST00000415241.1:c.410A>C
ENST00000420627.5:c.6164A>C ENSP00000408921.1:n.6164A>C
ENST00000422373.5:c.6184A>C ENSP00000416926.1:p.Ile2062Leu
ENST00000444578.1:c.151A>C ENSP00000397824.1:p.Ile51Leu
ENST00000466325.1:n.347A>C
ENST00000490936.5:n.2197A>C
ENST00000610817.4:c.5844+374A>C ENSP00000480593.1:n.5844+374A>C
NM_001110556.1:c.6208A>C NP_001104026.1:p.Ile2070Leu
NM_001456.3:c.6184A>C NP_001447.2:p.Ile2062Leu
XM_011531127.1:c.6112A>C XP_011529429.1:p.Ile2038Leu
XM_011531128.1:c.6088A>C XP_011529430.1:p.Ile2030Leu
XM_011531129.1:c.6034A>C XP_011529431.1:p.Ile2012Leu
XM_011531130.1:c.6010A>C XP_011529432.1:p.Ile2004Leu
XM_011531131.1:c.6007A>C XP_011529433.1:p.Ile2003Leu
NM_001110556.2:c.6208A>C MANE Select NP_001104026.1:p.Ile2070Leu
NM_001456.4:c.6184A>C NP_001447.2:p.Ile2062Leu