Canonical Allele Identifier: CA16608796
Gene: FLNA HGNC NCBI

Linked Data

ClinVar Variation Id: 392166
ClinVar RCV Id: RCV000430263
dbSNP Id: rs1057524378

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154350907A>G , CM000685.2:g.154350907A>G GRCh38
NC_000023.10:g.153579275A>G , CM000685.1:g.153579275A>G GRCh37
NC_000023.9:g.153232469A>G NCBI36
NG_011506.1:g.28732T>C
NG_011506.2:g.28732T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000360319.9:c.7132+2T>C ENSP00000353467.4:n.7132+2T>C
ENST00000369850.10:c.7156+2T>C MANE Select ENSP00000358866.3:n.7156+2T>C
ENST00000369856.8:c.7075+2T>C ENSP00000358872.4:n.7075+2T>C
ENST00000422373.6:c.3937+2T>C ENSP00000416926.2:n.3937+2T>C
ENST00000610817.5:c.7213+2T>C ENSP00000480593.2:n.7213+2T>C
ENST00000673639.2:c.280-2217T>C
ENST00000676696.1:c.7435+2T>C ENSP00000503392.1:n.7435+2T>C
ENST00000678304.1:n.2874+2T>C
ENST00000344736.8:c.7036+2T>C ENSP00000358863.3:n.7036+2T>C
ENST00000360319.8:c.7132+2T>C ENSP00000353467.4:n.7132+2T>C
ENST00000369850.7:c.7156+2T>C ENSP00000358866.3:n.7156+2T>C
ENST00000369856.7:c.7075+2T>C ENSP00000358872.4:n.7075+2T>C
ENST00000420627.5:c.7112+2T>C ENSP00000408921.1:n.7112+2T>C
ENST00000422373.5:c.7132+2T>C ENSP00000416926.1:n.7132+2T>C
ENST00000490936.5:n.3686T>C
ENST00000498411.1:n.67+1910T>C
ENST00000498491.5:n.197+2T>C
ENST00000610817.4:c.6160+2T>C ENSP00000480593.1:n.6160+2T>C
NM_001110556.1:c.7156+2T>C NP_001104026.1:n.7156+2T>C
NM_001456.3:c.7132+2T>C NP_001447.2:n.7132+2T>C
XM_011531127.1:c.7060+2T>C XP_011529429.1:n.7060+2T>C
XM_011531128.1:c.7036+2T>C XP_011529430.1:n.7036+2T>C
XM_011531129.1:c.6982+2T>C XP_011529431.1:n.6982+2T>C
XM_011531130.1:c.6958+2T>C XP_011529432.1:n.6958+2T>C
XM_011531131.1:c.6955+2T>C XP_011529433.1:n.6955+2T>C
NM_001110556.2:c.7156+2T>C MANE Select NP_001104026.1:n.7156+2T>C
NM_001456.4:c.7132+2T>C NP_001447.2:n.7132+2T>C