Canonical Allele Identifier: CA415194560
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352906A>C , CM000685.2:g.154352906A>C GRCh38
NC_000023.10:g.153581274A>C , CM000685.1:g.153581274A>C GRCh37
NC_000023.9:g.153234468A>C NCBI36
NG_011506.1:g.26733T>G
NG_011506.2:g.26733T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6221T>G ENSP00000353467.4:p.Leu2074Arg
ENST00000369850.10:c.6245T>G MANE Select ENSP00000358866.3:p.Leu2082Arg
ENST00000369856.8:c.6164T>G ENSP00000358872.4:p.Leu2055Arg
ENST00000422373.6:c.3161-231T>G ENSP00000416926.2:n.3161-231T>G
ENST00000610817.5:c.6302T>G ENSP00000480593.2:n.6302T>G
ENST00000673639.2:c.280-4216T>G
ENST00000676696.1:c.6524T>G ENSP00000503392.1:n.6524T>G
ENST00000678304.1:n.1424T>G
ENST00000344736.8:c.6125T>G ENSP00000358863.3:p.Leu2042Arg
ENST00000360319.8:c.6221T>G ENSP00000353467.4:p.Leu2074Arg
ENST00000369850.7:c.6245T>G ENSP00000358866.3:p.Leu2082Arg
ENST00000369856.7:c.6164T>G ENSP00000358872.4:p.Leu2055Arg
ENST00000415241.1:c.447T>G
ENST00000420627.5:c.6201T>G ENSP00000408921.1:n.6201T>G
ENST00000422373.5:c.6221T>G ENSP00000416926.1:p.Leu2074Arg
ENST00000444578.1:c.188T>G ENSP00000397824.1:p.Leu63Arg
ENST00000466325.1:n.460T>G
ENST00000490936.5:n.2234T>G
ENST00000610817.4:c.5844+487T>G ENSP00000480593.1:n.5844+487T>G
NM_001110556.1:c.6245T>G NP_001104026.1:p.Leu2082Arg
NM_001456.3:c.6221T>G NP_001447.2:p.Leu2074Arg
XM_011531127.1:c.6149T>G XP_011529429.1:p.Leu2050Arg
XM_011531128.1:c.6125T>G XP_011529430.1:p.Leu2042Arg
XM_011531129.1:c.6071T>G XP_011529431.1:p.Leu2024Arg
XM_011531130.1:c.6047T>G XP_011529432.1:p.Leu2016Arg
XM_011531131.1:c.6044T>G XP_011529433.1:p.Leu2015Arg
NM_001110556.2:c.6245T>G MANE Select NP_001104026.1:p.Leu2082Arg
NM_001456.4:c.6221T>G NP_001447.2:p.Leu2074Arg