Canonical Allele Identifier: CA415194547
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352904A>G , CM000685.2:g.154352904A>G GRCh38
NC_000023.10:g.153581272A>G , CM000685.1:g.153581272A>G GRCh37
NC_000023.9:g.153234466A>G NCBI36
NG_011506.1:g.26735T>C
NG_011506.2:g.26735T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6223T>C ENSP00000353467.4:p.Ser2075Pro
ENST00000369850.10:c.6247T>C MANE Select ENSP00000358866.3:p.Ser2083Pro
ENST00000369856.8:c.6166T>C ENSP00000358872.4:p.Ser2056Pro
ENST00000422373.6:c.3161-229T>C ENSP00000416926.2:n.3161-229T>C
ENST00000610817.5:c.6304T>C ENSP00000480593.2:n.6304T>C
ENST00000673639.2:c.280-4214T>C
ENST00000676696.1:c.6526T>C ENSP00000503392.1:n.6526T>C
ENST00000678304.1:n.1426T>C
ENST00000344736.8:c.6127T>C ENSP00000358863.3:p.Ser2043Pro
ENST00000360319.8:c.6223T>C ENSP00000353467.4:p.Ser2075Pro
ENST00000369850.7:c.6247T>C ENSP00000358866.3:p.Ser2083Pro
ENST00000369856.7:c.6166T>C ENSP00000358872.4:p.Ser2056Pro
ENST00000415241.1:c.449T>C
ENST00000420627.5:c.6203T>C ENSP00000408921.1:n.6203T>C
ENST00000422373.5:c.6223T>C ENSP00000416926.1:p.Ser2075Pro
ENST00000444578.1:c.190T>C ENSP00000397824.1:p.Ser64Pro
ENST00000466325.1:n.462T>C
ENST00000490936.5:n.2236T>C
ENST00000610817.4:c.5844+489T>C ENSP00000480593.1:n.5844+489T>C
NM_001110556.1:c.6247T>C NP_001104026.1:p.Ser2083Pro
NM_001456.3:c.6223T>C NP_001447.2:p.Ser2075Pro
XM_011531127.1:c.6151T>C XP_011529429.1:p.Ser2051Pro
XM_011531128.1:c.6127T>C XP_011529430.1:p.Ser2043Pro
XM_011531129.1:c.6073T>C XP_011529431.1:p.Ser2025Pro
XM_011531130.1:c.6049T>C XP_011529432.1:p.Ser2017Pro
XM_011531131.1:c.6046T>C XP_011529433.1:p.Ser2016Pro
NM_001110556.2:c.6247T>C MANE Select NP_001104026.1:p.Ser2083Pro
NM_001456.4:c.6223T>C NP_001447.2:p.Ser2075Pro