Canonical Allele Identifier: CA415195817
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353089A>C , CM000685.2:g.154353089A>C GRCh38
NC_000023.10:g.153581457A>C , CM000685.1:g.153581457A>C GRCh37
NC_000023.9:g.153234651A>C NCBI36
NG_011506.1:g.26550T>G
NG_011506.2:g.26550T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6114T>G ENSP00000353467.4:p.Asp2038Glu
ENST00000369850.10:c.6138T>G MANE Select ENSP00000358866.3:p.Asp2046Glu
ENST00000369856.8:c.6057T>G ENSP00000358872.4:p.Asp2019Glu
ENST00000422373.6:c.3161-414T>G ENSP00000416926.2:n.3161-414T>G
ENST00000610817.5:c.6195T>G ENSP00000480593.2:n.6195T>G
ENST00000673639.2:c.280-4399T>G
ENST00000676696.1:c.6417T>G ENSP00000503392.1:n.6417T>G
ENST00000678304.1:n.1317T>G
ENST00000344736.8:c.6018T>G ENSP00000358863.3:p.Asp2006Glu
ENST00000360319.8:c.6114T>G ENSP00000353467.4:p.Asp2038Glu
ENST00000369850.7:c.6138T>G ENSP00000358866.3:p.Asp2046Glu
ENST00000369856.7:c.6057T>G ENSP00000358872.4:p.Asp2019Glu
ENST00000415241.1:c.340T>G
ENST00000420627.5:c.6094T>G ENSP00000408921.1:n.6094T>G
ENST00000422373.5:c.6114T>G ENSP00000416926.1:p.Asp2038Glu
ENST00000444578.1:c.81T>G ENSP00000397824.1:p.Asp27Glu
ENST00000466325.1:n.277T>G
ENST00000490936.5:n.2127T>G
ENST00000610817.4:c.5844+304T>G ENSP00000480593.1:n.5844+304T>G
NM_001110556.1:c.6138T>G NP_001104026.1:p.Asp2046Glu
NM_001456.3:c.6114T>G NP_001447.2:p.Asp2038Glu
XM_011531127.1:c.6042T>G XP_011529429.1:p.Asp2014Glu
XM_011531128.1:c.6018T>G XP_011529430.1:p.Asp2006Glu
XM_011531129.1:c.5964T>G XP_011529431.1:p.Asp1988Glu
XM_011531130.1:c.5940T>G XP_011529432.1:p.Asp1980Glu
XM_011531131.1:c.5937T>G XP_011529433.1:p.Asp1979Glu
NM_001110556.2:c.6138T>G MANE Select NP_001104026.1:p.Asp2046Glu
NM_001456.4:c.6114T>G NP_001447.2:p.Asp2038Glu