Canonical Allele Identifier: CA415193018
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352780T>A , CM000685.2:g.154352780T>A GRCh38
NC_000023.10:g.153581148T>A , CM000685.1:g.153581148T>A GRCh37
NC_000023.9:g.153234342T>A NCBI36
NG_011506.1:g.26859A>T
NG_011506.2:g.26859A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6347A>T ENSP00000353467.4:p.His2116Leu
ENST00000369850.10:c.6371A>T MANE Select ENSP00000358866.3:p.His2124Leu
ENST00000369856.8:c.6290A>T ENSP00000358872.4:p.His2097Leu
ENST00000422373.6:c.3161-105A>T ENSP00000416926.2:n.3161-105A>T
ENST00000610817.5:c.6428A>T ENSP00000480593.2:n.6428A>T
ENST00000673639.2:c.280-4090A>T
ENST00000676696.1:c.6650A>T ENSP00000503392.1:n.6650A>T
ENST00000678304.1:n.1550A>T
ENST00000344736.8:c.6251A>T ENSP00000358863.3:p.His2084Leu
ENST00000360319.8:c.6347A>T ENSP00000353467.4:p.His2116Leu
ENST00000369850.7:c.6371A>T ENSP00000358866.3:p.His2124Leu
ENST00000369856.7:c.6290A>T ENSP00000358872.4:p.His2097Leu
ENST00000415241.1:c.573A>T
ENST00000420627.5:c.6327A>T ENSP00000408921.1:n.6327A>T
ENST00000422373.5:c.6347A>T ENSP00000416926.1:p.His2116Leu
ENST00000444578.1:c.314A>T ENSP00000397824.1:p.His105Leu
ENST00000466325.1:n.586A>T
ENST00000474358.5:n.4A>T
ENST00000490936.5:n.2360A>T
ENST00000498411.1:n.67+37A>T
ENST00000610817.4:c.5844+613A>T ENSP00000480593.1:n.5844+613A>T
NM_001110556.1:c.6371A>T NP_001104026.1:p.His2124Leu
NM_001456.3:c.6347A>T NP_001447.2:p.His2116Leu
XM_011531127.1:c.6275A>T XP_011529429.1:p.His2092Leu
XM_011531128.1:c.6251A>T XP_011529430.1:p.His2084Leu
XM_011531129.1:c.6197A>T XP_011529431.1:p.His2066Leu
XM_011531130.1:c.6173A>T XP_011529432.1:p.His2058Leu
XM_011531131.1:c.6170A>T XP_011529433.1:p.His2057Leu
NM_001110556.2:c.6371A>T MANE Select NP_001104026.1:p.His2124Leu
NM_001456.4:c.6347A>T NP_001447.2:p.His2116Leu