Canonical Allele Identifier: CA415194374
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352888C>A , CM000685.2:g.154352888C>A GRCh38
NC_000023.10:g.153581256C>A , CM000685.1:g.153581256C>A GRCh37
NC_000023.9:g.153234450C>A NCBI36
NG_011506.1:g.26751G>T
NG_011506.2:g.26751G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6239G>T ENSP00000353467.4:p.Ser2080Ile
ENST00000369850.10:c.6263G>T MANE Select ENSP00000358866.3:p.Ser2088Ile
ENST00000369856.8:c.6182G>T ENSP00000358872.4:p.Ser2061Ile
ENST00000422373.6:c.3161-213G>T ENSP00000416926.2:n.3161-213G>T
ENST00000610817.5:c.6320G>T ENSP00000480593.2:n.6320G>T
ENST00000673639.2:c.280-4198G>T
ENST00000676696.1:c.6542G>T ENSP00000503392.1:n.6542G>T
ENST00000678304.1:n.1442G>T
ENST00000344736.8:c.6143G>T ENSP00000358863.3:p.Ser2048Ile
ENST00000360319.8:c.6239G>T ENSP00000353467.4:p.Ser2080Ile
ENST00000369850.7:c.6263G>T ENSP00000358866.3:p.Ser2088Ile
ENST00000369856.7:c.6182G>T ENSP00000358872.4:p.Ser2061Ile
ENST00000415241.1:c.465G>T
ENST00000420627.5:c.6219G>T ENSP00000408921.1:n.6219G>T
ENST00000422373.5:c.6239G>T ENSP00000416926.1:p.Ser2080Ile
ENST00000444578.1:c.206G>T ENSP00000397824.1:p.Ser69Ile
ENST00000466325.1:n.478G>T
ENST00000490936.5:n.2252G>T
ENST00000610817.4:c.5844+505G>T ENSP00000480593.1:n.5844+505G>T
NM_001110556.1:c.6263G>T NP_001104026.1:p.Ser2088Ile
NM_001456.3:c.6239G>T NP_001447.2:p.Ser2080Ile
XM_011531127.1:c.6167G>T XP_011529429.1:p.Ser2056Ile
XM_011531128.1:c.6143G>T XP_011529430.1:p.Ser2048Ile
XM_011531129.1:c.6089G>T XP_011529431.1:p.Ser2030Ile
XM_011531130.1:c.6065G>T XP_011529432.1:p.Ser2022Ile
XM_011531131.1:c.6062G>T XP_011529433.1:p.Ser2021Ile
NM_001110556.2:c.6263G>T MANE Select NP_001104026.1:p.Ser2088Ile
NM_001456.4:c.6239G>T NP_001447.2:p.Ser2080Ile