Canonical Allele Identifier: CA10560948
Gene: FLNA HGNC NCBI

Linked Data

ClinVar Variation Id: 380416
dbSNP Id: rs201073998

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154362676C>T , CM000685.2:g.154362676C>T GRCh38
NC_000023.10:g.153591044C>T , CM000685.1:g.153591044C>T GRCh37
NC_000023.9:g.153244238C>T NCBI36
NG_011506.1:g.16963G>A
NG_011506.2:g.16963G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.2389G>A ENSP00000353467.4:p.Ala797Thr
ENST00000369850.10:c.2389G>A MANE Select ENSP00000358866.3:p.Ala797Thr
ENST00000369856.8:c.2308G>A ENSP00000358872.4:p.Ala770Thr
ENST00000422373.6:c.2389G>A ENSP00000416926.2:p.Ala797Thr
ENST00000610817.5:c.2446G>A ENSP00000480593.2:n.2446G>A
ENST00000673639.2:c.279+2760G>A
ENST00000676696.1:c.2668G>A ENSP00000503392.1:n.2668G>A
ENST00000344736.8:c.2389G>A ENSP00000358863.3:p.Ala797Thr
ENST00000360319.8:c.2389G>A ENSP00000353467.4:p.Ala797Thr
ENST00000369850.7:c.2389G>A ENSP00000358866.3:p.Ala797Thr
ENST00000369856.7:c.2308G>A ENSP00000358872.4:p.Ala770Thr
ENST00000420627.5:c.2345G>A ENSP00000408921.1:n.2345G>A
ENST00000422373.5:c.2389G>A ENSP00000416926.1:p.Ala797Thr
ENST00000610817.4:c.2308G>A ENSP00000480593.1:p.Ala770Thr
NM_001110556.1:c.2389G>A NP_001104026.1:p.Ala797Thr
NM_001456.3:c.2389G>A NP_001447.2:p.Ala797Thr
XM_011531127.1:c.2389G>A XP_011529429.1:p.Ala797Thr
XM_011531128.1:c.2389G>A XP_011529430.1:p.Ala797Thr
XM_011531129.1:c.2389G>A XP_011529431.1:p.Ala797Thr
XM_011531130.1:c.2389G>A XP_011529432.1:p.Ala797Thr
XM_011531131.1:c.2188G>A XP_011529433.1:p.Ala730Thr
NM_001110556.2:c.2389G>A MANE Select NP_001104026.1:p.Ala797Thr
NM_001456.4:c.2389G>A NP_001447.2:p.Ala797Thr