Canonical Allele Identifier: CA415193520
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352823C>G , CM000685.2:g.154352823C>G GRCh38
NC_000023.10:g.153581191C>G , CM000685.1:g.153581191C>G GRCh37
NC_000023.9:g.153234385C>G NCBI36
NG_011506.1:g.26816G>C
NG_011506.2:g.26816G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6304G>C ENSP00000353467.4:p.Glu2102Gln
ENST00000369850.10:c.6328G>C MANE Select ENSP00000358866.3:p.Glu2110Gln
ENST00000369856.8:c.6247G>C ENSP00000358872.4:p.Glu2083Gln
ENST00000422373.6:c.3161-148G>C ENSP00000416926.2:n.3161-148G>C
ENST00000610817.5:c.6385G>C ENSP00000480593.2:n.6385G>C
ENST00000673639.2:c.280-4133G>C
ENST00000676696.1:c.6607G>C ENSP00000503392.1:n.6607G>C
ENST00000678304.1:n.1507G>C
ENST00000344736.8:c.6208G>C ENSP00000358863.3:p.Glu2070Gln
ENST00000360319.8:c.6304G>C ENSP00000353467.4:p.Glu2102Gln
ENST00000369850.7:c.6328G>C ENSP00000358866.3:p.Glu2110Gln
ENST00000369856.7:c.6247G>C ENSP00000358872.4:p.Glu2083Gln
ENST00000415241.1:c.530G>C
ENST00000420627.5:c.6284G>C ENSP00000408921.1:n.6284G>C
ENST00000422373.5:c.6304G>C ENSP00000416926.1:p.Glu2102Gln
ENST00000444578.1:c.271G>C ENSP00000397824.1:p.Glu91Gln
ENST00000466325.1:n.543G>C
ENST00000490936.5:n.2317G>C
ENST00000498411.1:n.61G>C
ENST00000610817.4:c.5844+570G>C ENSP00000480593.1:n.5844+570G>C
NM_001110556.1:c.6328G>C NP_001104026.1:p.Glu2110Gln
NM_001456.3:c.6304G>C NP_001447.2:p.Glu2102Gln
XM_011531127.1:c.6232G>C XP_011529429.1:p.Glu2078Gln
XM_011531128.1:c.6208G>C XP_011529430.1:p.Glu2070Gln
XM_011531129.1:c.6154G>C XP_011529431.1:p.Glu2052Gln
XM_011531130.1:c.6130G>C XP_011529432.1:p.Glu2044Gln
XM_011531131.1:c.6127G>C XP_011529433.1:p.Glu2043Gln
NM_001110556.2:c.6328G>C MANE Select NP_001104026.1:p.Glu2110Gln
NM_001456.4:c.6304G>C NP_001447.2:p.Glu2102Gln