Canonical Allele Identifier: CA16621253
Gene: FLNA HGNC NCBI

Linked Data

ClinVar Variation Id: 423693
ClinVar RCV Id: RCV000483054
dbSNP Id: rs1064796581

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154362334T>C , CM000685.2:g.154362334T>C GRCh38
NC_000023.10:g.153590702T>C , CM000685.1:g.153590702T>C GRCh37
NC_000023.9:g.153243896T>C NCBI36
NG_011506.1:g.17305A>G
NG_011506.2:g.17305A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000360319.9:c.2566-2A>G ENSP00000353467.4:n.2566-2A>G
ENST00000369850.10:c.2566-2A>G MANE Select ENSP00000358866.3:n.2566-2A>G
ENST00000369856.8:c.2485-2A>G ENSP00000358872.4:n.2485-2A>G
ENST00000422373.6:c.2566-2A>G ENSP00000416926.2:n.2566-2A>G
ENST00000610817.5:c.2623-2A>G ENSP00000480593.2:n.2623-2A>G
ENST00000673639.2:c.279+3102A>G
ENST00000676696.1:c.2845-2A>G ENSP00000503392.1:n.2845-2A>G
ENST00000344736.8:c.2566-2A>G ENSP00000358863.3:n.2566-2A>G
ENST00000360319.8:c.2566-2A>G ENSP00000353467.4:n.2566-2A>G
ENST00000369850.7:c.2566-2A>G ENSP00000358866.3:n.2566-2A>G
ENST00000369856.7:c.2485-2A>G ENSP00000358872.4:n.2485-2A>G
ENST00000420627.5:c.2522-2A>G ENSP00000408921.1:n.2522-2A>G
ENST00000422373.5:c.2566-2A>G ENSP00000416926.1:n.2566-2A>G
ENST00000610817.4:c.2485-2A>G ENSP00000480593.1:n.2485-2A>G
NM_001110556.1:c.2566-2A>G NP_001104026.1:n.2566-2A>G
NM_001456.3:c.2566-2A>G NP_001447.2:n.2566-2A>G
XM_011531127.1:c.2566-2A>G XP_011529429.1:n.2566-2A>G
XM_011531128.1:c.2566-2A>G XP_011529430.1:n.2566-2A>G
XM_011531129.1:c.2566-2A>G XP_011529431.1:n.2566-2A>G
XM_011531130.1:c.2566-2A>G XP_011529432.1:n.2566-2A>G
XM_011531131.1:c.2365-2A>G XP_011529433.1:n.2365-2A>G
NM_001110556.2:c.2566-2A>G MANE Select NP_001104026.1:n.2566-2A>G
NM_001456.4:c.2566-2A>G NP_001447.2:n.2566-2A>G