Canonical Allele Identifier: CA415194637
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352912A>C , CM000685.2:g.154352912A>C GRCh38
NC_000023.10:g.153581280A>C , CM000685.1:g.153581280A>C GRCh37
NC_000023.9:g.153234474A>C NCBI36
NG_011506.1:g.26727T>G
NG_011506.2:g.26727T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000360319.9:c.6215T>G ENSP00000353467.4:p.Leu2072Arg
ENST00000369850.10:c.6239T>G MANE Select ENSP00000358866.3:p.Leu2080Arg
ENST00000369856.8:c.6158T>G ENSP00000358872.4:p.Leu2053Arg
ENST00000422373.6:c.3161-237T>G ENSP00000416926.2:n.3161-237T>G
ENST00000610817.5:c.6296T>G ENSP00000480593.2:n.6296T>G
ENST00000673639.2:c.280-4222T>G
ENST00000676696.1:c.6518T>G ENSP00000503392.1:n.6518T>G
ENST00000678304.1:n.1418T>G
ENST00000344736.8:c.6119T>G ENSP00000358863.3:p.Leu2040Arg
ENST00000360319.8:c.6215T>G ENSP00000353467.4:p.Leu2072Arg
ENST00000369850.7:c.6239T>G ENSP00000358866.3:p.Leu2080Arg
ENST00000369856.7:c.6158T>G ENSP00000358872.4:p.Leu2053Arg
ENST00000415241.1:c.441T>G
ENST00000420627.5:c.6195T>G ENSP00000408921.1:n.6195T>G
ENST00000422373.5:c.6215T>G ENSP00000416926.1:p.Leu2072Arg
ENST00000444578.1:c.182T>G ENSP00000397824.1:p.Leu61Arg
ENST00000466325.1:n.454T>G
ENST00000490936.5:n.2228T>G
ENST00000610817.4:c.5844+481T>G ENSP00000480593.1:n.5844+481T>G
NM_001110556.1:c.6239T>G NP_001104026.1:p.Leu2080Arg
NM_001456.3:c.6215T>G NP_001447.2:p.Leu2072Arg
XM_011531127.1:c.6143T>G XP_011529429.1:p.Leu2048Arg
XM_011531128.1:c.6119T>G XP_011529430.1:p.Leu2040Arg
XM_011531129.1:c.6065T>G XP_011529431.1:p.Leu2022Arg
XM_011531130.1:c.6041T>G XP_011529432.1:p.Leu2014Arg
XM_011531131.1:c.6038T>G XP_011529433.1:p.Leu2013Arg
NM_001110556.2:c.6239T>G MANE Select NP_001104026.1:p.Leu2080Arg
NM_001456.4:c.6215T>G NP_001447.2:p.Leu2072Arg