Canonical Allele Identifier: CA415195668
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353067C>A , CM000685.2:g.154353067C>A GRCh38
NC_000023.10:g.153581435C>A , CM000685.1:g.153581435C>A GRCh37
NC_000023.9:g.153234629C>A NCBI36
NG_011506.1:g.26572G>T
NG_011506.2:g.26572G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6136G>T ENSP00000353467.4:p.Gly2046Cys
ENST00000369850.10:c.6160G>T MANE Select ENSP00000358866.3:p.Gly2054Cys
ENST00000369856.8:c.6079G>T ENSP00000358872.4:p.Gly2027Cys
ENST00000422373.6:c.3161-392G>T ENSP00000416926.2:n.3161-392G>T
ENST00000610817.5:c.6217G>T ENSP00000480593.2:n.6217G>T
ENST00000673639.2:c.280-4377G>T
ENST00000676696.1:c.6439G>T ENSP00000503392.1:n.6439G>T
ENST00000678304.1:n.1339G>T
ENST00000344736.8:c.6040G>T ENSP00000358863.3:p.Gly2014Cys
ENST00000360319.8:c.6136G>T ENSP00000353467.4:p.Gly2046Cys
ENST00000369850.7:c.6160G>T ENSP00000358866.3:p.Gly2054Cys
ENST00000369856.7:c.6079G>T ENSP00000358872.4:p.Gly2027Cys
ENST00000415241.1:c.362G>T
ENST00000420627.5:c.6116G>T ENSP00000408921.1:n.6116G>T
ENST00000422373.5:c.6136G>T ENSP00000416926.1:p.Gly2046Cys
ENST00000444578.1:c.103G>T ENSP00000397824.1:p.Gly35Cys
ENST00000466325.1:n.299G>T
ENST00000490936.5:n.2149G>T
ENST00000610817.4:c.5844+326G>T ENSP00000480593.1:n.5844+326G>T
NM_001110556.1:c.6160G>T NP_001104026.1:p.Gly2054Cys
NM_001456.3:c.6136G>T NP_001447.2:p.Gly2046Cys
XM_011531127.1:c.6064G>T XP_011529429.1:p.Gly2022Cys
XM_011531128.1:c.6040G>T XP_011529430.1:p.Gly2014Cys
XM_011531129.1:c.5986G>T XP_011529431.1:p.Gly1996Cys
XM_011531130.1:c.5962G>T XP_011529432.1:p.Gly1988Cys
XM_011531131.1:c.5959G>T XP_011529433.1:p.Gly1987Cys
NM_001110556.2:c.6160G>T MANE Select NP_001104026.1:p.Gly2054Cys
NM_001456.4:c.6136G>T NP_001447.2:p.Gly2046Cys