Canonical Allele Identifier: CA415184691
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154350917A>C , CM000685.2:g.154350917A>C GRCh38
NC_000023.10:g.153579285A>C , CM000685.1:g.153579285A>C GRCh37
NC_000023.9:g.153232479A>C NCBI36
NG_011506.1:g.28722T>G
NG_011506.2:g.28722T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000360319.9:c.7124T>G ENSP00000353467.4:p.Ile2375Ser
ENST00000369850.10:c.7148T>G MANE Select ENSP00000358866.3:p.Ile2383Ser
ENST00000369856.8:c.7067T>G ENSP00000358872.4:p.Ile2356Ser
ENST00000422373.6:c.3929T>G ENSP00000416926.2:p.Ile1310Ser
ENST00000610817.5:c.7205T>G ENSP00000480593.2:n.7205T>G
ENST00000673639.2:c.280-2227T>G
ENST00000676696.1:c.7427T>G ENSP00000503392.1:n.7427T>G
ENST00000678304.1:n.2866T>G
ENST00000344736.8:c.7028T>G ENSP00000358863.3:p.Ile2343Ser
ENST00000360319.8:c.7124T>G ENSP00000353467.4:p.Ile2375Ser
ENST00000369850.7:c.7148T>G ENSP00000358866.3:p.Ile2383Ser
ENST00000369856.7:c.7067T>G ENSP00000358872.4:p.Ile2356Ser
ENST00000420627.5:c.7104T>G ENSP00000408921.1:n.7104T>G
ENST00000422373.5:c.7124T>G ENSP00000416926.1:p.Ile2375Ser
ENST00000490936.5:n.3676T>G
ENST00000498411.1:n.67+1900T>G
ENST00000498491.5:n.189T>G
ENST00000610817.4:c.6152T>G ENSP00000480593.1:p.Ile2051Ser
NM_001110556.1:c.7148T>G NP_001104026.1:p.Ile2383Ser
NM_001456.3:c.7124T>G NP_001447.2:p.Ile2375Ser
XM_011531127.1:c.7052T>G XP_011529429.1:p.Ile2351Ser
XM_011531128.1:c.7028T>G XP_011529430.1:p.Ile2343Ser
XM_011531129.1:c.6974T>G XP_011529431.1:p.Ile2325Ser
XM_011531130.1:c.6950T>G XP_011529432.1:p.Ile2317Ser
XM_011531131.1:c.6947T>G XP_011529433.1:p.Ile2316Ser
NM_001110556.2:c.7148T>G MANE Select NP_001104026.1:p.Ile2383Ser
NM_001456.4:c.7124T>G NP_001447.2:p.Ile2375Ser