Canonical Allele Identifier: CA415194648
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352913G>T , CM000685.2:g.154352913G>T GRCh38
NC_000023.10:g.153581281G>T , CM000685.1:g.153581281G>T GRCh37
NC_000023.9:g.153234475G>T NCBI36
NG_011506.1:g.26726C>A
NG_011506.2:g.26726C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360319.9:c.6214C>A ENSP00000353467.4:p.Leu2072Ile
ENST00000369850.10:c.6238C>A MANE Select ENSP00000358866.3:p.Leu2080Ile
ENST00000369856.8:c.6157C>A ENSP00000358872.4:p.Leu2053Ile
ENST00000422373.6:c.3161-238C>A ENSP00000416926.2:n.3161-238C>A
ENST00000610817.5:c.6295C>A ENSP00000480593.2:n.6295C>A
ENST00000673639.2:c.280-4223C>A
ENST00000676696.1:c.6517C>A ENSP00000503392.1:n.6517C>A
ENST00000678304.1:n.1417C>A
ENST00000344736.8:c.6118C>A ENSP00000358863.3:p.Leu2040Ile
ENST00000360319.8:c.6214C>A ENSP00000353467.4:p.Leu2072Ile
ENST00000369850.7:c.6238C>A ENSP00000358866.3:p.Leu2080Ile
ENST00000369856.7:c.6157C>A ENSP00000358872.4:p.Leu2053Ile
ENST00000415241.1:c.440C>A
ENST00000420627.5:c.6194C>A ENSP00000408921.1:n.6194C>A
ENST00000422373.5:c.6214C>A ENSP00000416926.1:p.Leu2072Ile
ENST00000444578.1:c.181C>A ENSP00000397824.1:p.Leu61Ile
ENST00000466325.1:n.453C>A
ENST00000490936.5:n.2227C>A
ENST00000610817.4:c.5844+480C>A ENSP00000480593.1:n.5844+480C>A
NM_001110556.1:c.6238C>A NP_001104026.1:p.Leu2080Ile
NM_001456.3:c.6214C>A NP_001447.2:p.Leu2072Ile
XM_011531127.1:c.6142C>A XP_011529429.1:p.Leu2048Ile
XM_011531128.1:c.6118C>A XP_011529430.1:p.Leu2040Ile
XM_011531129.1:c.6064C>A XP_011529431.1:p.Leu2022Ile
XM_011531130.1:c.6040C>A XP_011529432.1:p.Leu2014Ile
XM_011531131.1:c.6037C>A XP_011529433.1:p.Leu2013Ile
NM_001110556.2:c.6238C>A MANE Select NP_001104026.1:p.Leu2080Ile
NM_001456.4:c.6214C>A NP_001447.2:p.Leu2072Ile