Canonical Allele Identifier: CA415196469
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353168A>G , CM000685.2:g.154353168A>G GRCh38
NC_000023.10:g.153581536A>G , CM000685.1:g.153581536A>G GRCh37
NC_000023.9:g.153234730A>G NCBI36
NG_011506.1:g.26471T>C
NG_011506.2:g.26471T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6035T>C ENSP00000353467.4:p.Leu2012Pro
ENST00000369850.10:c.6059T>C MANE Select ENSP00000358866.3:p.Leu2020Pro
ENST00000369856.8:c.5978T>C ENSP00000358872.4:p.Leu1993Pro
ENST00000422373.6:c.3161-493T>C ENSP00000416926.2:n.3161-493T>C
ENST00000610817.5:c.6116T>C ENSP00000480593.2:n.6116T>C
ENST00000673639.2:c.280-4478T>C
ENST00000676696.1:c.6338T>C ENSP00000503392.1:n.6338T>C
ENST00000678304.1:n.1238T>C
ENST00000344736.8:c.5939T>C ENSP00000358863.3:p.Leu1980Pro
ENST00000360319.8:c.6035T>C ENSP00000353467.4:p.Leu2012Pro
ENST00000369850.7:c.6059T>C ENSP00000358866.3:p.Leu2020Pro
ENST00000369856.7:c.5978T>C ENSP00000358872.4:p.Leu1993Pro
ENST00000415241.1:c.261T>C
ENST00000420627.5:c.6015T>C ENSP00000408921.1:n.6015T>C
ENST00000422373.5:c.6035T>C ENSP00000416926.1:p.Leu2012Pro
ENST00000444578.1:c.2T>C ENSP00000397824.1:p.Leu1Pro
ENST00000466325.1:n.198T>C
ENST00000490936.5:n.2048T>C
ENST00000610817.4:c.5844+225T>C ENSP00000480593.1:n.5844+225T>C
NM_001110556.1:c.6059T>C NP_001104026.1:p.Leu2020Pro
NM_001456.3:c.6035T>C NP_001447.2:p.Leu2012Pro
XM_011531127.1:c.5963T>C XP_011529429.1:p.Leu1988Pro
XM_011531128.1:c.5939T>C XP_011529430.1:p.Leu1980Pro
XM_011531129.1:c.5885T>C XP_011529431.1:p.Leu1962Pro
XM_011531130.1:c.5861T>C XP_011529432.1:p.Leu1954Pro
XM_011531131.1:c.5858T>C XP_011529433.1:p.Leu1953Pro
NM_001110556.2:c.6059T>C MANE Select NP_001104026.1:p.Leu2020Pro
NM_001456.4:c.6035T>C NP_001447.2:p.Leu2012Pro