Canonical Allele Identifier: CA337272867
Gene: FLNA HGNC NCBI

Linked Data

ClinVar Variation Id: 465020
dbSNP Id: rs909387820

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154349738G>T , CM000685.2:g.154349738G>T GRCh38
NC_000023.10:g.153578106G>T , CM000685.1:g.153578106G>T GRCh37
NC_000023.9:g.153231300G>T NCBI36
NG_011506.1:g.29901C>A
NG_011506.2:g.29901C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.7439C>A ENSP00000353467.4:p.Thr2480Asn
ENST00000369850.10:c.7463C>A MANE Select ENSP00000358866.3:p.Thr2488Asn
ENST00000369856.8:c.7382C>A ENSP00000358872.4:p.Thr2461Asn
ENST00000422373.6:c.4244C>A ENSP00000416926.2:p.Thr1415Asn
ENST00000610817.5:c.7520C>A ENSP00000480593.2:n.7520C>A
ENST00000673639.2:c.280-1048C>A
ENST00000676696.1:c.7742C>A ENSP00000503392.1:n.7742C>A
ENST00000678304.1:n.3181C>A
ENST00000344736.8:c.7343C>A ENSP00000358863.3:p.Thr2448Asn
ENST00000360319.8:c.7439C>A ENSP00000353467.4:p.Thr2480Asn
ENST00000369850.7:c.7463C>A ENSP00000358866.3:p.Thr2488Asn
ENST00000369856.7:c.7382C>A ENSP00000358872.4:p.Thr2461Asn
ENST00000420627.5:c.7419C>A ENSP00000408921.1:n.7419C>A
ENST00000422373.5:c.7439C>A ENSP00000416926.1:p.Thr2480Asn
ENST00000462590.1:n.618C>A
ENST00000490936.5:n.4692C>A
ENST00000498411.1:n.68-908C>A
ENST00000498491.5:n.504C>A
ENST00000610817.4:c.6467C>A ENSP00000480593.1:p.Thr2156Asn
NM_001110556.1:c.7463C>A NP_001104026.1:p.Thr2488Asn
NM_001456.3:c.7439C>A NP_001447.2:p.Thr2480Asn
XM_011531127.1:c.7367C>A XP_011529429.1:p.Thr2456Asn
XM_011531128.1:c.7343C>A XP_011529430.1:p.Thr2448Asn
XM_011531129.1:c.7289C>A XP_011529431.1:p.Thr2430Asn
XM_011531130.1:c.7265C>A XP_011529432.1:p.Thr2422Asn
XM_011531131.1:c.7262C>A XP_011529433.1:p.Thr2421Asn
NM_001110556.2:c.7463C>A MANE Select NP_001104026.1:p.Thr2488Asn
NM_001456.4:c.7439C>A NP_001447.2:p.Thr2480Asn