Canonical Allele Identifier: CA415200173
Gene: FLNA HGNC NCBI

Linked Data

ClinVar Variation Id: 533566
ClinVar RCV Id: RCV002233040
dbSNP Id: rs1557176315

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353914C>G , CM000685.2:g.154353914C>G GRCh38
NC_000023.10:g.153582282C>G , CM000685.1:g.153582282C>G GRCh37
NC_000023.9:g.153235476C>G NCBI36
NG_011506.1:g.25725G>C
NG_011506.2:g.25725G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.5662+1G>C ENSP00000353467.4:n.5662+1G>C
ENST00000369850.10:c.5686+1G>C MANE Select ENSP00000358866.3:n.5686+1G>C
ENST00000369856.8:c.5605+1G>C ENSP00000358872.4:n.5605+1G>C
ENST00000422373.6:c.3161-1239G>C ENSP00000416926.2:n.3161-1239G>C
ENST00000610817.5:c.5743+1G>C ENSP00000480593.2:n.5743+1G>C
ENST00000673639.2:c.280-5224G>C
ENST00000676696.1:c.5965+1G>C ENSP00000503392.1:n.5965+1G>C
ENST00000678304.1:n.865+1G>C
ENST00000344736.8:c.5566+1G>C ENSP00000358863.3:n.5566+1G>C
ENST00000360319.8:c.5662+1G>C ENSP00000353467.4:n.5662+1G>C
ENST00000369850.7:c.5686+1G>C ENSP00000358866.3:n.5686+1G>C
ENST00000369856.7:c.5605+1G>C ENSP00000358872.4:n.5605+1G>C
ENST00000420627.5:c.5642+1G>C ENSP00000408921.1:n.5642+1G>C
ENST00000422373.5:c.5662+1G>C ENSP00000416926.1:n.5662+1G>C
ENST00000438732.2:c.534+1G>C
ENST00000490936.5:n.1675+1G>C
ENST00000610817.4:c.5605+1G>C ENSP00000480593.1:n.5605+1G>C
NM_001110556.1:c.5686+1G>C NP_001104026.1:n.5686+1G>C
NM_001456.3:c.5662+1G>C NP_001447.2:n.5662+1G>C
XM_011531127.1:c.5590+1G>C XP_011529429.1:n.5590+1G>C
XM_011531128.1:c.5566+1G>C XP_011529430.1:n.5566+1G>C
XM_011531129.1:c.5686+1G>C XP_011529431.1:n.5686+1G>C
XM_011531130.1:c.5662+1G>C XP_011529432.1:n.5662+1G>C
XM_011531131.1:c.5485+1G>C XP_011529433.1:n.5485+1G>C
NM_001110556.2:c.5686+1G>C MANE Select NP_001104026.1:n.5686+1G>C
NM_001456.4:c.5662+1G>C NP_001447.2:n.5662+1G>C