Canonical Allele Identifier: CA415194571
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6220C>G ENSP00000353467.4:p.Leu2074Val
ENST00000369850.10:c.6244C>G MANE Select ENSP00000358866.3:p.Leu2082Val
ENST00000369856.8:c.6163C>G ENSP00000358872.4:p.Leu2055Val
ENST00000422373.6:c.3161-232C>G ENSP00000416926.2:n.3161-232C>G
ENST00000610817.5:c.6301C>G ENSP00000480593.2:n.6301C>G
ENST00000673639.2:c.280-4217C>G
ENST00000676696.1:c.6523C>G ENSP00000503392.1:n.6523C>G
ENST00000678304.1:n.1423C>G
ENST00000344736.8:c.6124C>G ENSP00000358863.3:p.Leu2042Val
ENST00000360319.8:c.6220C>G ENSP00000353467.4:p.Leu2074Val
ENST00000369850.7:c.6244C>G ENSP00000358866.3:p.Leu2082Val
ENST00000369856.7:c.6163C>G ENSP00000358872.4:p.Leu2055Val
ENST00000415241.1:c.446C>G
ENST00000420627.5:c.6200C>G ENSP00000408921.1:n.6200C>G
ENST00000422373.5:c.6220C>G ENSP00000416926.1:p.Leu2074Val
ENST00000444578.1:c.187C>G ENSP00000397824.1:p.Leu63Val
ENST00000466325.1:n.459C>G
ENST00000490936.5:n.2233C>G
ENST00000610817.4:c.5844+486C>G ENSP00000480593.1:n.5844+486C>G
NM_001110556.1:c.6244C>G NP_001104026.1:p.Leu2082Val
NM_001456.3:c.6220C>G NP_001447.2:p.Leu2074Val
XM_011531127.1:c.6148C>G XP_011529429.1:p.Leu2050Val
XM_011531128.1:c.6124C>G XP_011529430.1:p.Leu2042Val
XM_011531129.1:c.6070C>G XP_011529431.1:p.Leu2024Val
XM_011531130.1:c.6046C>G XP_011529432.1:p.Leu2016Val
XM_011531131.1:c.6043C>G XP_011529433.1:p.Leu2015Val
NM_001110556.2:c.6244C>G MANE Select NP_001104026.1:p.Leu2082Val
NM_001456.4:c.6220C>G NP_001447.2:p.Leu2074Val