Canonical Allele Identifier: CA415184433
Community Standard Title: NM_001110556.2(FLNA):c.7176C>G (p.Phe2392Leu)
Gene: FLNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154350188G>C , CM000685.2:g.154350188G>C GRCh38
NC_000023.10:g.153578556G>C , CM000685.1:g.153578556G>C GRCh37
NC_000023.9:g.153231750G>C NCBI36
NG_011506.1:g.29451C>G
NG_011506.2:g.29451C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001110556.2:c.7176C>G MANE Select NP_001104026.1:p.Phe2392Leu
ENST00000369850.10:c.7176C>G MANE Select ENSP00000358866.3:p.Phe2392Leu
NM_001110556.1:c.7176C>G NP_001104026.1:p.Phe2392Leu
NM_001456.3:c.7152C>G NP_001447.2:p.Phe2384Leu
NM_001456.4:c.7152C>G NP_001447.2:p.Phe2384Leu
ENST00000344736.8:c.7056C>G ENSP00000358863.3:p.Phe2352Leu
ENST00000360319.8:c.7152C>G ENSP00000353467.4:p.Phe2384Leu
ENST00000360319.9:c.7152C>G ENSP00000353467.4:p.Phe2384Leu
ENST00000369850.7:c.7176C>G ENSP00000358866.3:p.Phe2392Leu
ENST00000369856.7:c.7095C>G ENSP00000358872.4:p.Phe2365Leu
ENST00000369856.8:c.7095C>G ENSP00000358872.4:p.Phe2365Leu
ENST00000420627.5:c.7132C>G ENSP00000408921.1:n.7132C>G
ENST00000422373.5:c.7152C>G ENSP00000416926.1:p.Phe2384Leu
ENST00000422373.6:c.3957C>G ENSP00000416926.2:p.Phe1319Leu
ENST00000462590.1:n.168C>G
ENST00000490936.5:n.4405C>G
ENST00000498411.1:n.68-1358C>G
ENST00000498491.5:n.217C>G
ENST00000610817.4:c.6180C>G ENSP00000480593.1:p.Phe2060Leu
ENST00000610817.5:c.7233C>G ENSP00000480593.2:n.7233C>G
ENST00000673639.2:c.280-1498C>G
ENST00000676696.1:c.7455C>G ENSP00000503392.1:n.7455C>G
ENST00000678304.1:n.2894C>G
XM_011531127.1:c.7080C>G XP_011529429.1:p.Phe2360Leu
XM_011531128.1:c.7056C>G XP_011529430.1:p.Phe2352Leu
XM_011531129.1:c.7002C>G XP_011529431.1:p.Phe2334Leu
XM_011531130.1:c.6978C>G XP_011529432.1:p.Phe2326Leu
XM_011531131.1:c.6975C>G XP_011529433.1:p.Phe2325Leu