Canonical Allele Identifier: CA415192664
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352665G>T , CM000685.2:g.154352665G>T GRCh38
NC_000023.10:g.153581033G>T , CM000685.1:g.153581033G>T GRCh37
NC_000023.9:g.153234227G>T NCBI36
NG_011506.1:g.26974C>A
NG_011506.2:g.26974C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6366C>A ENSP00000353467.4:p.Phe2122Leu
ENST00000369850.10:c.6390C>A MANE Select ENSP00000358866.3:p.Phe2130Leu
ENST00000369856.8:c.6309C>A ENSP00000358872.4:p.Phe2103Leu
ENST00000422373.6:c.3171C>A ENSP00000416926.2:p.Phe1057Leu
ENST00000610817.5:c.6447C>A ENSP00000480593.2:n.6447C>A
ENST00000673639.2:c.280-3975C>A
ENST00000676696.1:c.6669C>A ENSP00000503392.1:n.6669C>A
ENST00000678304.1:n.1569C>A
ENST00000344736.8:c.6270C>A ENSP00000358863.3:p.Phe2090Leu
ENST00000360319.8:c.6366C>A ENSP00000353467.4:p.Phe2122Leu
ENST00000369850.7:c.6390C>A ENSP00000358866.3:p.Phe2130Leu
ENST00000369856.7:c.6309C>A ENSP00000358872.4:p.Phe2103Leu
ENST00000415241.1:c.592C>A
ENST00000420627.5:c.6346C>A ENSP00000408921.1:n.6346C>A
ENST00000422373.5:c.6366C>A ENSP00000416926.1:p.Phe2122Leu
ENST00000444578.1:c.322+107C>A ENSP00000397824.1:n.322+107C>A
ENST00000466325.1:n.701C>A
ENST00000474358.5:n.23C>A
ENST00000490936.5:n.2379C>A
ENST00000498411.1:n.67+152C>A
ENST00000610817.4:c.5845-715C>A ENSP00000480593.1:n.5845-715C>A
NM_001110556.1:c.6390C>A NP_001104026.1:p.Phe2130Leu
NM_001456.3:c.6366C>A NP_001447.2:p.Phe2122Leu
XM_011531127.1:c.6294C>A XP_011529429.1:p.Phe2098Leu
XM_011531128.1:c.6270C>A XP_011529430.1:p.Phe2090Leu
XM_011531129.1:c.6216C>A XP_011529431.1:p.Phe2072Leu
XM_011531130.1:c.6192C>A XP_011529432.1:p.Phe2064Leu
XM_011531131.1:c.6189C>A XP_011529433.1:p.Phe2063Leu
NM_001110556.2:c.6390C>A MANE Select NP_001104026.1:p.Phe2130Leu
NM_001456.4:c.6366C>A NP_001447.2:p.Phe2122Leu