Canonical Allele Identifier: CA415193437
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352813T>G , CM000685.2:g.154352813T>G GRCh38
NC_000023.10:g.153581181T>G , CM000685.1:g.153581181T>G GRCh37
NC_000023.9:g.153234375T>G NCBI36
NG_011506.1:g.26826A>C
NG_011506.2:g.26826A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000360319.9:c.6314A>C ENSP00000353467.4:p.Asn2105Thr
ENST00000369850.10:c.6338A>C MANE Select ENSP00000358866.3:p.Asn2113Thr
ENST00000369856.8:c.6257A>C ENSP00000358872.4:p.Asn2086Thr
ENST00000422373.6:c.3161-138A>C ENSP00000416926.2:n.3161-138A>C
ENST00000610817.5:c.6395A>C ENSP00000480593.2:n.6395A>C
ENST00000673639.2:c.280-4123A>C
ENST00000676696.1:c.6617A>C ENSP00000503392.1:n.6617A>C
ENST00000678304.1:n.1517A>C
ENST00000344736.8:c.6218A>C ENSP00000358863.3:p.Asn2073Thr
ENST00000360319.8:c.6314A>C ENSP00000353467.4:p.Asn2105Thr
ENST00000369850.7:c.6338A>C ENSP00000358866.3:p.Asn2113Thr
ENST00000369856.7:c.6257A>C ENSP00000358872.4:p.Asn2086Thr
ENST00000415241.1:c.540A>C
ENST00000420627.5:c.6294A>C ENSP00000408921.1:n.6294A>C
ENST00000422373.5:c.6314A>C ENSP00000416926.1:p.Asn2105Thr
ENST00000444578.1:c.281A>C ENSP00000397824.1:p.Asn94Thr
ENST00000466325.1:n.553A>C
ENST00000490936.5:n.2327A>C
ENST00000498411.1:n.67+4A>C
ENST00000610817.4:c.5844+580A>C ENSP00000480593.1:n.5844+580A>C
NM_001110556.1:c.6338A>C NP_001104026.1:p.Asn2113Thr
NM_001456.3:c.6314A>C NP_001447.2:p.Asn2105Thr
XM_011531127.1:c.6242A>C XP_011529429.1:p.Asn2081Thr
XM_011531128.1:c.6218A>C XP_011529430.1:p.Asn2073Thr
XM_011531129.1:c.6164A>C XP_011529431.1:p.Asn2055Thr
XM_011531130.1:c.6140A>C XP_011529432.1:p.Asn2047Thr
XM_011531131.1:c.6137A>C XP_011529433.1:p.Asn2046Thr
NM_001110556.2:c.6338A>C MANE Select NP_001104026.1:p.Asn2113Thr
NM_001456.4:c.6314A>C NP_001447.2:p.Asn2105Thr