Canonical Allele Identifier: CA415194621
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352909C>A , CM000685.2:g.154352909C>A GRCh38
NC_000023.10:g.153581277C>A , CM000685.1:g.153581277C>A GRCh37
NC_000023.9:g.153234471C>A NCBI36
NG_011506.1:g.26730G>T
NG_011506.2:g.26730G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000360319.9:c.6218G>T ENSP00000353467.4:p.Ser2073Ile
ENST00000369850.10:c.6242G>T MANE Select ENSP00000358866.3:p.Ser2081Ile
ENST00000369856.8:c.6161G>T ENSP00000358872.4:p.Ser2054Ile
ENST00000422373.6:c.3161-234G>T ENSP00000416926.2:n.3161-234G>T
ENST00000610817.5:c.6299G>T ENSP00000480593.2:n.6299G>T
ENST00000673639.2:c.280-4219G>T
ENST00000676696.1:c.6521G>T ENSP00000503392.1:n.6521G>T
ENST00000678304.1:n.1421G>T
ENST00000344736.8:c.6122G>T ENSP00000358863.3:p.Ser2041Ile
ENST00000360319.8:c.6218G>T ENSP00000353467.4:p.Ser2073Ile
ENST00000369850.7:c.6242G>T ENSP00000358866.3:p.Ser2081Ile
ENST00000369856.7:c.6161G>T ENSP00000358872.4:p.Ser2054Ile
ENST00000415241.1:c.444G>T
ENST00000420627.5:c.6198G>T ENSP00000408921.1:n.6198G>T
ENST00000422373.5:c.6218G>T ENSP00000416926.1:p.Ser2073Ile
ENST00000444578.1:c.185G>T ENSP00000397824.1:p.Ser62Ile
ENST00000466325.1:n.457G>T
ENST00000490936.5:n.2231G>T
ENST00000610817.4:c.5844+484G>T ENSP00000480593.1:n.5844+484G>T
NM_001110556.1:c.6242G>T NP_001104026.1:p.Ser2081Ile
NM_001456.3:c.6218G>T NP_001447.2:p.Ser2073Ile
XM_011531127.1:c.6146G>T XP_011529429.1:p.Ser2049Ile
XM_011531128.1:c.6122G>T XP_011529430.1:p.Ser2041Ile
XM_011531129.1:c.6068G>T XP_011529431.1:p.Ser2023Ile
XM_011531130.1:c.6044G>T XP_011529432.1:p.Ser2015Ile
XM_011531131.1:c.6041G>T XP_011529433.1:p.Ser2014Ile
NM_001110556.2:c.6242G>T MANE Select NP_001104026.1:p.Ser2081Ile
NM_001456.4:c.6218G>T NP_001447.2:p.Ser2073Ile