Canonical Allele Identifier: CA16043271
Gene: FLNA HGNC NCBI

Linked Data

ClinVar Variation Id: 373109
ClinVar RCV Id: RCV000414514
dbSNP Id: rs1057518223

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154358356C>T , CM000685.2:g.154358356C>T GRCh38
NC_000023.10:g.153586724C>T , CM000685.1:g.153586724C>T GRCh37
NC_000023.9:g.153239918C>T NCBI36
NG_011506.1:g.21283G>A
NG_011506.2:g.21283G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360319.9:c.4599-1G>A ENSP00000353467.4:n.4599-1G>A
ENST00000369850.10:c.4599-1G>A MANE Select ENSP00000358866.3:n.4599-1G>A
ENST00000369856.8:c.4518-1G>A ENSP00000358872.4:n.4518-1G>A
ENST00000422373.6:c.3160+2999G>A ENSP00000416926.2:n.3160+2999G>A
ENST00000610817.5:c.4656-1G>A ENSP00000480593.2:n.4656-1G>A
ENST00000673639.2:c.279+7080G>A
ENST00000676696.1:c.4878-1G>A ENSP00000503392.1:n.4878-1G>A
ENST00000678304.1:n.148+733G>A
ENST00000344736.8:c.4599-1G>A ENSP00000358863.3:n.4599-1G>A
ENST00000360319.8:c.4599-1G>A ENSP00000353467.4:n.4599-1G>A
ENST00000369850.7:c.4599-1G>A ENSP00000358866.3:n.4599-1G>A
ENST00000369856.7:c.4518-1G>A ENSP00000358872.4:n.4518-1G>A
ENST00000420627.5:c.4555-1G>A ENSP00000408921.1:n.4555-1G>A
ENST00000422373.5:c.4599-1G>A ENSP00000416926.1:n.4599-1G>A
ENST00000466319.1:n.221-1G>A
ENST00000490936.5:n.612-1G>A
ENST00000610817.4:c.4518-1G>A ENSP00000480593.1:n.4518-1G>A
NM_001110556.1:c.4599-1G>A NP_001104026.1:n.4599-1G>A
NM_001456.3:c.4599-1G>A NP_001447.2:n.4599-1G>A
XM_011531127.1:c.4599-1G>A XP_011529429.1:n.4599-1G>A
XM_011531128.1:c.4599-1G>A XP_011529430.1:n.4599-1G>A
XM_011531129.1:c.4599-1G>A XP_011529431.1:n.4599-1G>A
XM_011531130.1:c.4599-1G>A XP_011529432.1:n.4599-1G>A
XM_011531131.1:c.4398-1G>A XP_011529433.1:n.4398-1G>A
NM_001110556.2:c.4599-1G>A MANE Select NP_001104026.1:n.4599-1G>A
NM_001456.4:c.4599-1G>A NP_001447.2:n.4599-1G>A