Canonical Allele Identifier: CA415193874
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352852C>A , CM000685.2:g.154352852C>A GRCh38
NC_000023.10:g.153581220C>A , CM000685.1:g.153581220C>A GRCh37
NC_000023.9:g.153234414C>A NCBI36
NG_011506.1:g.26787G>T
NG_011506.2:g.26787G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6275G>T ENSP00000353467.4:p.Gly2092Val
ENST00000369850.10:c.6299G>T MANE Select ENSP00000358866.3:p.Gly2100Val
ENST00000369856.8:c.6218G>T ENSP00000358872.4:p.Gly2073Val
ENST00000422373.6:c.3161-177G>T ENSP00000416926.2:n.3161-177G>T
ENST00000610817.5:c.6356G>T ENSP00000480593.2:n.6356G>T
ENST00000673639.2:c.280-4162G>T
ENST00000676696.1:c.6578G>T ENSP00000503392.1:n.6578G>T
ENST00000678304.1:n.1478G>T
ENST00000344736.8:c.6179G>T ENSP00000358863.3:p.Gly2060Val
ENST00000360319.8:c.6275G>T ENSP00000353467.4:p.Gly2092Val
ENST00000369850.7:c.6299G>T ENSP00000358866.3:p.Gly2100Val
ENST00000369856.7:c.6218G>T ENSP00000358872.4:p.Gly2073Val
ENST00000415241.1:c.501G>T
ENST00000420627.5:c.6255G>T ENSP00000408921.1:n.6255G>T
ENST00000422373.5:c.6275G>T ENSP00000416926.1:p.Gly2092Val
ENST00000444578.1:c.242G>T ENSP00000397824.1:p.Gly81Val
ENST00000466325.1:n.514G>T
ENST00000490936.5:n.2288G>T
ENST00000498411.1:n.32G>T
ENST00000610817.4:c.5844+541G>T ENSP00000480593.1:n.5844+541G>T
NM_001110556.1:c.6299G>T NP_001104026.1:p.Gly2100Val
NM_001456.3:c.6275G>T NP_001447.2:p.Gly2092Val
XM_011531127.1:c.6203G>T XP_011529429.1:p.Gly2068Val
XM_011531128.1:c.6179G>T XP_011529430.1:p.Gly2060Val
XM_011531129.1:c.6125G>T XP_011529431.1:p.Gly2042Val
XM_011531130.1:c.6101G>T XP_011529432.1:p.Gly2034Val
XM_011531131.1:c.6098G>T XP_011529433.1:p.Gly2033Val
NM_001110556.2:c.6299G>T MANE Select NP_001104026.1:p.Gly2100Val
NM_001456.4:c.6275G>T NP_001447.2:p.Gly2092Val