Canonical Allele Identifier: CA415195912
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353102G>C , CM000685.2:g.154353102G>C GRCh38
NC_000023.10:g.153581470G>C , CM000685.1:g.153581470G>C GRCh37
NC_000023.9:g.153234664G>C NCBI36
NG_011506.1:g.26537C>G
NG_011506.2:g.26537C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6101C>G ENSP00000353467.4:p.Ser2034Trp
ENST00000369850.10:c.6125C>G MANE Select ENSP00000358866.3:p.Ser2042Trp
ENST00000369856.8:c.6044C>G ENSP00000358872.4:p.Ser2015Trp
ENST00000422373.6:c.3161-427C>G ENSP00000416926.2:n.3161-427C>G
ENST00000610817.5:c.6182C>G ENSP00000480593.2:n.6182C>G
ENST00000673639.2:c.280-4412C>G
ENST00000676696.1:c.6404C>G ENSP00000503392.1:n.6404C>G
ENST00000678304.1:n.1304C>G
ENST00000344736.8:c.6005C>G ENSP00000358863.3:p.Ser2002Trp
ENST00000360319.8:c.6101C>G ENSP00000353467.4:p.Ser2034Trp
ENST00000369850.7:c.6125C>G ENSP00000358866.3:p.Ser2042Trp
ENST00000369856.7:c.6044C>G ENSP00000358872.4:p.Ser2015Trp
ENST00000415241.1:c.327C>G
ENST00000420627.5:c.6081C>G ENSP00000408921.1:n.6081C>G
ENST00000422373.5:c.6101C>G ENSP00000416926.1:p.Ser2034Trp
ENST00000444578.1:c.68C>G ENSP00000397824.1:p.Ser23Trp
ENST00000466325.1:n.264C>G
ENST00000490936.5:n.2114C>G
ENST00000610817.4:c.5844+291C>G ENSP00000480593.1:n.5844+291C>G
NM_001110556.1:c.6125C>G NP_001104026.1:p.Ser2042Trp
NM_001456.3:c.6101C>G NP_001447.2:p.Ser2034Trp
XM_011531127.1:c.6029C>G XP_011529429.1:p.Ser2010Trp
XM_011531128.1:c.6005C>G XP_011529430.1:p.Ser2002Trp
XM_011531129.1:c.5951C>G XP_011529431.1:p.Ser1984Trp
XM_011531130.1:c.5927C>G XP_011529432.1:p.Ser1976Trp
XM_011531131.1:c.5924C>G XP_011529433.1:p.Ser1975Trp
NM_001110556.2:c.6125C>G MANE Select NP_001104026.1:p.Ser2042Trp
NM_001456.4:c.6101C>G NP_001447.2:p.Ser2034Trp