Canonical Allele Identifier: CA415197234
Gene: FLNA HGNC NCBI

Linked Data

dbSNP Id: rs2148105353

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353331G>A , CM000685.2:g.154353331G>A GRCh38
NC_000023.10:g.153581699G>A , CM000685.1:g.153581699G>A GRCh37
NC_000023.9:g.153234893G>A NCBI36
NG_011506.1:g.26308C>T
NG_011506.2:g.26308C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.5963C>T ENSP00000353467.4:p.Pro1988Leu
ENST00000369850.10:c.5987C>T MANE Select ENSP00000358866.3:p.Pro1996Leu
ENST00000369856.8:c.5906C>T ENSP00000358872.4:p.Pro1969Leu
ENST00000422373.6:c.3161-656C>T ENSP00000416926.2:n.3161-656C>T
ENST00000610817.5:c.6044C>T ENSP00000480593.2:n.6044C>T
ENST00000673639.2:c.280-4641C>T
ENST00000676696.1:c.6266C>T ENSP00000503392.1:n.6266C>T
ENST00000678304.1:n.1166C>T
ENST00000344736.8:c.5867C>T ENSP00000358863.3:p.Pro1956Leu
ENST00000360319.8:c.5963C>T ENSP00000353467.4:p.Pro1988Leu
ENST00000369850.7:c.5987C>T ENSP00000358866.3:p.Pro1996Leu
ENST00000369856.7:c.5906C>T ENSP00000358872.4:p.Pro1969Leu
ENST00000415241.1:c.172C>T
ENST00000420627.5:c.5943C>T ENSP00000408921.1:n.5943C>T
ENST00000422373.5:c.5963C>T ENSP00000416926.1:p.Pro1988Leu
ENST00000438732.2:c.661C>T
ENST00000466325.1:n.126C>T
ENST00000490936.5:n.1976C>T
ENST00000610817.4:c.5844+62C>T ENSP00000480593.1:n.5844+62C>T
NM_001110556.1:c.5987C>T NP_001104026.1:p.Pro1996Leu
NM_001456.3:c.5963C>T NP_001447.2:p.Pro1988Leu
XM_011531127.1:c.5891C>T XP_011529429.1:p.Pro1964Leu
XM_011531128.1:c.5867C>T XP_011529430.1:p.Pro1956Leu
XM_011531129.1:c.5813C>T XP_011529431.1:p.Pro1938Leu
XM_011531130.1:c.5789C>T XP_011529432.1:p.Pro1930Leu
XM_011531131.1:c.5786C>T XP_011529433.1:p.Pro1929Leu
NM_001110556.2:c.5987C>T MANE Select NP_001104026.1:p.Pro1996Leu
NM_001456.4:c.5963C>T NP_001447.2:p.Pro1988Leu