Canonical Allele Identifier: CA415193099
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352787C>A , CM000685.2:g.154352787C>A GRCh38
NC_000023.10:g.153581155C>A , CM000685.1:g.153581155C>A GRCh37
NC_000023.9:g.153234349C>A NCBI36
NG_011506.1:g.26852G>T
NG_011506.2:g.26852G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6340G>T ENSP00000353467.4:p.Asp2114Tyr
ENST00000369850.10:c.6364G>T MANE Select ENSP00000358866.3:p.Asp2122Tyr
ENST00000369856.8:c.6283G>T ENSP00000358872.4:p.Asp2095Tyr
ENST00000422373.6:c.3161-112G>T ENSP00000416926.2:n.3161-112G>T
ENST00000610817.5:c.6421G>T ENSP00000480593.2:n.6421G>T
ENST00000673639.2:c.280-4097G>T
ENST00000676696.1:c.6643G>T ENSP00000503392.1:n.6643G>T
ENST00000678304.1:n.1543G>T
ENST00000344736.8:c.6244G>T ENSP00000358863.3:p.Asp2082Tyr
ENST00000360319.8:c.6340G>T ENSP00000353467.4:p.Asp2114Tyr
ENST00000369850.7:c.6364G>T ENSP00000358866.3:p.Asp2122Tyr
ENST00000369856.7:c.6283G>T ENSP00000358872.4:p.Asp2095Tyr
ENST00000415241.1:c.566G>T
ENST00000420627.5:c.6320G>T ENSP00000408921.1:n.6320G>T
ENST00000422373.5:c.6340G>T ENSP00000416926.1:p.Asp2114Tyr
ENST00000444578.1:c.307G>T ENSP00000397824.1:p.Asp103Tyr
ENST00000466325.1:n.579G>T
ENST00000490936.5:n.2353G>T
ENST00000498411.1:n.67+30G>T
ENST00000610817.4:c.5844+606G>T ENSP00000480593.1:n.5844+606G>T
NM_001110556.1:c.6364G>T NP_001104026.1:p.Asp2122Tyr
NM_001456.3:c.6340G>T NP_001447.2:p.Asp2114Tyr
XM_011531127.1:c.6268G>T XP_011529429.1:p.Asp2090Tyr
XM_011531128.1:c.6244G>T XP_011529430.1:p.Asp2082Tyr
XM_011531129.1:c.6190G>T XP_011529431.1:p.Asp2064Tyr
XM_011531130.1:c.6166G>T XP_011529432.1:p.Asp2056Tyr
XM_011531131.1:c.6163G>T XP_011529433.1:p.Asp2055Tyr
NM_001110556.2:c.6364G>T MANE Select NP_001104026.1:p.Asp2122Tyr
NM_001456.4:c.6340G>T NP_001447.2:p.Asp2114Tyr