Canonical Allele Identifier: CA415195675
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353069G>A , CM000685.2:g.154353069G>A GRCh38
NC_000023.10:g.153581437G>A , CM000685.1:g.153581437G>A GRCh37
NC_000023.9:g.153234631G>A NCBI36
NG_011506.1:g.26570C>T
NG_011506.2:g.26570C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6134C>T ENSP00000353467.4:p.Ser2045Phe
ENST00000369850.10:c.6158C>T MANE Select ENSP00000358866.3:p.Ser2053Phe
ENST00000369856.8:c.6077C>T ENSP00000358872.4:p.Ser2026Phe
ENST00000422373.6:c.3161-394C>T ENSP00000416926.2:n.3161-394C>T
ENST00000610817.5:c.6215C>T ENSP00000480593.2:n.6215C>T
ENST00000673639.2:c.280-4379C>T
ENST00000676696.1:c.6437C>T ENSP00000503392.1:n.6437C>T
ENST00000678304.1:n.1337C>T
ENST00000344736.8:c.6038C>T ENSP00000358863.3:p.Ser2013Phe
ENST00000360319.8:c.6134C>T ENSP00000353467.4:p.Ser2045Phe
ENST00000369850.7:c.6158C>T ENSP00000358866.3:p.Ser2053Phe
ENST00000369856.7:c.6077C>T ENSP00000358872.4:p.Ser2026Phe
ENST00000415241.1:c.360C>T
ENST00000420627.5:c.6114C>T ENSP00000408921.1:n.6114C>T
ENST00000422373.5:c.6134C>T ENSP00000416926.1:p.Ser2045Phe
ENST00000444578.1:c.101C>T ENSP00000397824.1:p.Ser34Phe
ENST00000466325.1:n.297C>T
ENST00000490936.5:n.2147C>T
ENST00000610817.4:c.5844+324C>T ENSP00000480593.1:n.5844+324C>T
NM_001110556.1:c.6158C>T NP_001104026.1:p.Ser2053Phe
NM_001456.3:c.6134C>T NP_001447.2:p.Ser2045Phe
XM_011531127.1:c.6062C>T XP_011529429.1:p.Ser2021Phe
XM_011531128.1:c.6038C>T XP_011529430.1:p.Ser2013Phe
XM_011531129.1:c.5984C>T XP_011529431.1:p.Ser1995Phe
XM_011531130.1:c.5960C>T XP_011529432.1:p.Ser1987Phe
XM_011531131.1:c.5957C>T XP_011529433.1:p.Ser1986Phe
NM_001110556.2:c.6158C>T MANE Select NP_001104026.1:p.Ser2053Phe
NM_001456.4:c.6134C>T NP_001447.2:p.Ser2045Phe