Canonical Allele Identifier: CA415194647
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000360319.9:c.6214C>G ENSP00000353467.4:p.Leu2072Val
ENST00000369850.10:c.6238C>G MANE Select ENSP00000358866.3:p.Leu2080Val
ENST00000369856.8:c.6157C>G ENSP00000358872.4:p.Leu2053Val
ENST00000422373.6:c.3161-238C>G ENSP00000416926.2:n.3161-238C>G
ENST00000610817.5:c.6295C>G ENSP00000480593.2:n.6295C>G
ENST00000673639.2:c.280-4223C>G
ENST00000676696.1:c.6517C>G ENSP00000503392.1:n.6517C>G
ENST00000678304.1:n.1417C>G
ENST00000344736.8:c.6118C>G ENSP00000358863.3:p.Leu2040Val
ENST00000360319.8:c.6214C>G ENSP00000353467.4:p.Leu2072Val
ENST00000369850.7:c.6238C>G ENSP00000358866.3:p.Leu2080Val
ENST00000369856.7:c.6157C>G ENSP00000358872.4:p.Leu2053Val
ENST00000415241.1:c.440C>G
ENST00000420627.5:c.6194C>G ENSP00000408921.1:n.6194C>G
ENST00000422373.5:c.6214C>G ENSP00000416926.1:p.Leu2072Val
ENST00000444578.1:c.181C>G ENSP00000397824.1:p.Leu61Val
ENST00000466325.1:n.453C>G
ENST00000490936.5:n.2227C>G
ENST00000610817.4:c.5844+480C>G ENSP00000480593.1:n.5844+480C>G
NM_001110556.1:c.6238C>G NP_001104026.1:p.Leu2080Val
NM_001456.3:c.6214C>G NP_001447.2:p.Leu2072Val
XM_011531127.1:c.6142C>G XP_011529429.1:p.Leu2048Val
XM_011531128.1:c.6118C>G XP_011529430.1:p.Leu2040Val
XM_011531129.1:c.6064C>G XP_011529431.1:p.Leu2022Val
XM_011531130.1:c.6040C>G XP_011529432.1:p.Leu2014Val
XM_011531131.1:c.6037C>G XP_011529433.1:p.Leu2013Val
NM_001110556.2:c.6238C>G MANE Select NP_001104026.1:p.Leu2080Val
NM_001456.4:c.6214C>G NP_001447.2:p.Leu2072Val