Canonical Allele Identifier: CA415194574
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352907G>T , CM000685.2:g.154352907G>T GRCh38
NC_000023.10:g.153581275G>T , CM000685.1:g.153581275G>T GRCh37
NC_000023.9:g.153234469G>T NCBI36
NG_011506.1:g.26732C>A
NG_011506.2:g.26732C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6220C>A ENSP00000353467.4:p.Leu2074Met
ENST00000369850.10:c.6244C>A MANE Select ENSP00000358866.3:p.Leu2082Met
ENST00000369856.8:c.6163C>A ENSP00000358872.4:p.Leu2055Met
ENST00000422373.6:c.3161-232C>A ENSP00000416926.2:n.3161-232C>A
ENST00000610817.5:c.6301C>A ENSP00000480593.2:n.6301C>A
ENST00000673639.2:c.280-4217C>A
ENST00000676696.1:c.6523C>A ENSP00000503392.1:n.6523C>A
ENST00000678304.1:n.1423C>A
ENST00000344736.8:c.6124C>A ENSP00000358863.3:p.Leu2042Met
ENST00000360319.8:c.6220C>A ENSP00000353467.4:p.Leu2074Met
ENST00000369850.7:c.6244C>A ENSP00000358866.3:p.Leu2082Met
ENST00000369856.7:c.6163C>A ENSP00000358872.4:p.Leu2055Met
ENST00000415241.1:c.446C>A
ENST00000420627.5:c.6200C>A ENSP00000408921.1:n.6200C>A
ENST00000422373.5:c.6220C>A ENSP00000416926.1:p.Leu2074Met
ENST00000444578.1:c.187C>A ENSP00000397824.1:p.Leu63Met
ENST00000466325.1:n.459C>A
ENST00000490936.5:n.2233C>A
ENST00000610817.4:c.5844+486C>A ENSP00000480593.1:n.5844+486C>A
NM_001110556.1:c.6244C>A NP_001104026.1:p.Leu2082Met
NM_001456.3:c.6220C>A NP_001447.2:p.Leu2074Met
XM_011531127.1:c.6148C>A XP_011529429.1:p.Leu2050Met
XM_011531128.1:c.6124C>A XP_011529430.1:p.Leu2042Met
XM_011531129.1:c.6070C>A XP_011529431.1:p.Leu2024Met
XM_011531130.1:c.6046C>A XP_011529432.1:p.Leu2016Met
XM_011531131.1:c.6043C>A XP_011529433.1:p.Leu2015Met
NM_001110556.2:c.6244C>A MANE Select NP_001104026.1:p.Leu2082Met
NM_001456.4:c.6220C>A NP_001447.2:p.Leu2074Met