Canonical Allele Identifier: CA415195939
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353105T>G , CM000685.2:g.154353105T>G GRCh38
NC_000023.10:g.153581473T>G , CM000685.1:g.153581473T>G GRCh37
NC_000023.9:g.153234667T>G NCBI36
NG_011506.1:g.26534A>C
NG_011506.2:g.26534A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6098A>C ENSP00000353467.4:p.Gln2033Pro
ENST00000369850.10:c.6122A>C MANE Select ENSP00000358866.3:p.Gln2041Pro
ENST00000369856.8:c.6041A>C ENSP00000358872.4:p.Gln2014Pro
ENST00000422373.6:c.3161-430A>C ENSP00000416926.2:n.3161-430A>C
ENST00000610817.5:c.6179A>C ENSP00000480593.2:n.6179A>C
ENST00000673639.2:c.280-4415A>C
ENST00000676696.1:c.6401A>C ENSP00000503392.1:n.6401A>C
ENST00000678304.1:n.1301A>C
ENST00000344736.8:c.6002A>C ENSP00000358863.3:p.Gln2001Pro
ENST00000360319.8:c.6098A>C ENSP00000353467.4:p.Gln2033Pro
ENST00000369850.7:c.6122A>C ENSP00000358866.3:p.Gln2041Pro
ENST00000369856.7:c.6041A>C ENSP00000358872.4:p.Gln2014Pro
ENST00000415241.1:c.324A>C
ENST00000420627.5:c.6078A>C ENSP00000408921.1:n.6078A>C
ENST00000422373.5:c.6098A>C ENSP00000416926.1:p.Gln2033Pro
ENST00000444578.1:c.65A>C ENSP00000397824.1:p.Gln22Pro
ENST00000466325.1:n.261A>C
ENST00000490936.5:n.2111A>C
ENST00000610817.4:c.5844+288A>C ENSP00000480593.1:n.5844+288A>C
NM_001110556.1:c.6122A>C NP_001104026.1:p.Gln2041Pro
NM_001456.3:c.6098A>C NP_001447.2:p.Gln2033Pro
XM_011531127.1:c.6026A>C XP_011529429.1:p.Gln2009Pro
XM_011531128.1:c.6002A>C XP_011529430.1:p.Gln2001Pro
XM_011531129.1:c.5948A>C XP_011529431.1:p.Gln1983Pro
XM_011531130.1:c.5924A>C XP_011529432.1:p.Gln1975Pro
XM_011531131.1:c.5921A>C XP_011529433.1:p.Gln1974Pro
NM_001110556.2:c.6122A>C MANE Select NP_001104026.1:p.Gln2041Pro
NM_001456.4:c.6098A>C NP_001447.2:p.Gln2033Pro