Canonical Allele Identifier: CA415194294
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352880C>A , CM000685.2:g.154352880C>A GRCh38
NC_000023.10:g.153581248C>A , CM000685.1:g.153581248C>A GRCh37
NC_000023.9:g.153234442C>A NCBI36
NG_011506.1:g.26759G>T
NG_011506.2:g.26759G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6247G>T ENSP00000353467.4:p.Asp2083Tyr
ENST00000369850.10:c.6271G>T MANE Select ENSP00000358866.3:p.Asp2091Tyr
ENST00000369856.8:c.6190G>T ENSP00000358872.4:p.Asp2064Tyr
ENST00000422373.6:c.3161-205G>T ENSP00000416926.2:n.3161-205G>T
ENST00000610817.5:c.6328G>T ENSP00000480593.2:n.6328G>T
ENST00000673639.2:c.280-4190G>T
ENST00000676696.1:c.6550G>T ENSP00000503392.1:n.6550G>T
ENST00000678304.1:n.1450G>T
ENST00000344736.8:c.6151G>T ENSP00000358863.3:p.Asp2051Tyr
ENST00000360319.8:c.6247G>T ENSP00000353467.4:p.Asp2083Tyr
ENST00000369850.7:c.6271G>T ENSP00000358866.3:p.Asp2091Tyr
ENST00000369856.7:c.6190G>T ENSP00000358872.4:p.Asp2064Tyr
ENST00000415241.1:c.473G>T
ENST00000420627.5:c.6227G>T ENSP00000408921.1:n.6227G>T
ENST00000422373.5:c.6247G>T ENSP00000416926.1:p.Asp2083Tyr
ENST00000444578.1:c.214G>T ENSP00000397824.1:p.Asp72Tyr
ENST00000466325.1:n.486G>T
ENST00000490936.5:n.2260G>T
ENST00000498411.1:n.4G>T
ENST00000610817.4:c.5844+513G>T ENSP00000480593.1:n.5844+513G>T
NM_001110556.1:c.6271G>T NP_001104026.1:p.Asp2091Tyr
NM_001456.3:c.6247G>T NP_001447.2:p.Asp2083Tyr
XM_011531127.1:c.6175G>T XP_011529429.1:p.Asp2059Tyr
XM_011531128.1:c.6151G>T XP_011529430.1:p.Asp2051Tyr
XM_011531129.1:c.6097G>T XP_011529431.1:p.Asp2033Tyr
XM_011531130.1:c.6073G>T XP_011529432.1:p.Asp2025Tyr
XM_011531131.1:c.6070G>T XP_011529433.1:p.Asp2024Tyr
NM_001110556.2:c.6271G>T MANE Select NP_001104026.1:p.Asp2091Tyr
NM_001456.4:c.6247G>T NP_001447.2:p.Asp2083Tyr