Canonical Allele Identifier: CA415194172
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352872G>C , CM000685.2:g.154352872G>C GRCh38
NC_000023.10:g.153581240G>C , CM000685.1:g.153581240G>C GRCh37
NC_000023.9:g.153234434G>C NCBI36
NG_011506.1:g.26767C>G
NG_011506.2:g.26767C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6255C>G ENSP00000353467.4:p.Asn2085Lys
ENST00000369850.10:c.6279C>G MANE Select ENSP00000358866.3:p.Asn2093Lys
ENST00000369856.8:c.6198C>G ENSP00000358872.4:p.Asn2066Lys
ENST00000422373.6:c.3161-197C>G ENSP00000416926.2:n.3161-197C>G
ENST00000610817.5:c.6336C>G ENSP00000480593.2:n.6336C>G
ENST00000673639.2:c.280-4182C>G
ENST00000676696.1:c.6558C>G ENSP00000503392.1:n.6558C>G
ENST00000678304.1:n.1458C>G
ENST00000344736.8:c.6159C>G ENSP00000358863.3:p.Asn2053Lys
ENST00000360319.8:c.6255C>G ENSP00000353467.4:p.Asn2085Lys
ENST00000369850.7:c.6279C>G ENSP00000358866.3:p.Asn2093Lys
ENST00000369856.7:c.6198C>G ENSP00000358872.4:p.Asn2066Lys
ENST00000415241.1:c.481C>G
ENST00000420627.5:c.6235C>G ENSP00000408921.1:n.6235C>G
ENST00000422373.5:c.6255C>G ENSP00000416926.1:p.Asn2085Lys
ENST00000444578.1:c.222C>G ENSP00000397824.1:p.Asn74Lys
ENST00000466325.1:n.494C>G
ENST00000490936.5:n.2268C>G
ENST00000498411.1:n.12C>G
ENST00000610817.4:c.5844+521C>G ENSP00000480593.1:n.5844+521C>G
NM_001110556.1:c.6279C>G NP_001104026.1:p.Asn2093Lys
NM_001456.3:c.6255C>G NP_001447.2:p.Asn2085Lys
XM_011531127.1:c.6183C>G XP_011529429.1:p.Asn2061Lys
XM_011531128.1:c.6159C>G XP_011529430.1:p.Asn2053Lys
XM_011531129.1:c.6105C>G XP_011529431.1:p.Asn2035Lys
XM_011531130.1:c.6081C>G XP_011529432.1:p.Asn2027Lys
XM_011531131.1:c.6078C>G XP_011529433.1:p.Asn2026Lys
NM_001110556.2:c.6279C>G MANE Select NP_001104026.1:p.Asn2093Lys
NM_001456.4:c.6255C>G NP_001447.2:p.Asn2085Lys