Canonical Allele Identifier: CA415196374
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353157T>A , CM000685.2:g.154353157T>A GRCh38
NC_000023.10:g.153581525T>A , CM000685.1:g.153581525T>A GRCh37
NC_000023.9:g.153234719T>A NCBI36
NG_011506.1:g.26482A>T
NG_011506.2:g.26482A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6046A>T ENSP00000353467.4:p.Lys2016Ter
ENST00000369850.10:c.6070A>T MANE Select ENSP00000358866.3:p.Lys2024Ter
ENST00000369856.8:c.5989A>T ENSP00000358872.4:p.Lys1997Ter
ENST00000422373.6:c.3161-482A>T ENSP00000416926.2:n.3161-482A>T
ENST00000610817.5:c.6127A>T ENSP00000480593.2:n.6127A>T
ENST00000673639.2:c.280-4467A>T
ENST00000676696.1:c.6349A>T ENSP00000503392.1:n.6349A>T
ENST00000678304.1:n.1249A>T
ENST00000344736.8:c.5950A>T ENSP00000358863.3:p.Lys1984Ter
ENST00000360319.8:c.6046A>T ENSP00000353467.4:p.Lys2016Ter
ENST00000369850.7:c.6070A>T ENSP00000358866.3:p.Lys2024Ter
ENST00000369856.7:c.5989A>T ENSP00000358872.4:p.Lys1997Ter
ENST00000415241.1:c.272A>T
ENST00000420627.5:c.6026A>T ENSP00000408921.1:n.6026A>T
ENST00000422373.5:c.6046A>T ENSP00000416926.1:p.Lys2016Ter
ENST00000444578.1:c.13A>T ENSP00000397824.1:p.Lys5Ter
ENST00000466325.1:n.209A>T
ENST00000490936.5:n.2059A>T
ENST00000610817.4:c.5844+236A>T ENSP00000480593.1:n.5844+236A>T
NM_001110556.1:c.6070A>T NP_001104026.1:p.Lys2024Ter
NM_001456.3:c.6046A>T NP_001447.2:p.Lys2016Ter
XM_011531127.1:c.5974A>T XP_011529429.1:p.Lys1992Ter
XM_011531128.1:c.5950A>T XP_011529430.1:p.Lys1984Ter
XM_011531129.1:c.5896A>T XP_011529431.1:p.Lys1966Ter
XM_011531130.1:c.5872A>T XP_011529432.1:p.Lys1958Ter
XM_011531131.1:c.5869A>T XP_011529433.1:p.Lys1957Ter
NM_001110556.2:c.6070A>T MANE Select NP_001104026.1:p.Lys2024Ter
NM_001456.4:c.6046A>T NP_001447.2:p.Lys2016Ter