Canonical Allele Identifier: CA415195536
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353054T>A , CM000685.2:g.154353054T>A GRCh38
NC_000023.10:g.153581422T>A , CM000685.1:g.153581422T>A GRCh37
NC_000023.9:g.153234616T>A NCBI36
NG_011506.1:g.26585A>T
NG_011506.2:g.26585A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6149A>T ENSP00000353467.4:p.His2050Leu
ENST00000369850.10:c.6173A>T MANE Select ENSP00000358866.3:p.His2058Leu
ENST00000369856.8:c.6092A>T ENSP00000358872.4:p.His2031Leu
ENST00000422373.6:c.3161-379A>T ENSP00000416926.2:n.3161-379A>T
ENST00000610817.5:c.6230A>T ENSP00000480593.2:n.6230A>T
ENST00000673639.2:c.280-4364A>T
ENST00000676696.1:c.6452A>T ENSP00000503392.1:n.6452A>T
ENST00000678304.1:n.1352A>T
ENST00000344736.8:c.6053A>T ENSP00000358863.3:p.His2018Leu
ENST00000360319.8:c.6149A>T ENSP00000353467.4:p.His2050Leu
ENST00000369850.7:c.6173A>T ENSP00000358866.3:p.His2058Leu
ENST00000369856.7:c.6092A>T ENSP00000358872.4:p.His2031Leu
ENST00000415241.1:c.375A>T
ENST00000420627.5:c.6129A>T ENSP00000408921.1:n.6129A>T
ENST00000422373.5:c.6149A>T ENSP00000416926.1:p.His2050Leu
ENST00000444578.1:c.116A>T ENSP00000397824.1:p.His39Leu
ENST00000466325.1:n.312A>T
ENST00000490936.5:n.2162A>T
ENST00000610817.4:c.5844+339A>T ENSP00000480593.1:n.5844+339A>T
NM_001110556.1:c.6173A>T NP_001104026.1:p.His2058Leu
NM_001456.3:c.6149A>T NP_001447.2:p.His2050Leu
XM_011531127.1:c.6077A>T XP_011529429.1:p.His2026Leu
XM_011531128.1:c.6053A>T XP_011529430.1:p.His2018Leu
XM_011531129.1:c.5999A>T XP_011529431.1:p.His2000Leu
XM_011531130.1:c.5975A>T XP_011529432.1:p.His1992Leu
XM_011531131.1:c.5972A>T XP_011529433.1:p.His1991Leu
NM_001110556.2:c.6173A>T MANE Select NP_001104026.1:p.His2058Leu
NM_001456.4:c.6149A>T NP_001447.2:p.His2050Leu