Canonical Allele Identifier: CA415197493
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353358A>G , CM000685.2:g.154353358A>G GRCh38
NC_000023.10:g.153581726A>G , CM000685.1:g.153581726A>G GRCh37
NC_000023.9:g.153234920A>G NCBI36
NG_011506.1:g.26281T>C
NG_011506.2:g.26281T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.5936T>C ENSP00000353467.4:p.Val1979Ala
ENST00000369850.10:c.5960T>C MANE Select ENSP00000358866.3:p.Val1987Ala
ENST00000369856.8:c.5879T>C ENSP00000358872.4:p.Val1960Ala
ENST00000422373.6:c.3161-683T>C ENSP00000416926.2:n.3161-683T>C
ENST00000610817.5:c.6017T>C ENSP00000480593.2:n.6017T>C
ENST00000673639.2:c.280-4668T>C
ENST00000676696.1:c.6239T>C ENSP00000503392.1:n.6239T>C
ENST00000678304.1:n.1139T>C
ENST00000344736.8:c.5840T>C ENSP00000358863.3:p.Val1947Ala
ENST00000360319.8:c.5936T>C ENSP00000353467.4:p.Val1979Ala
ENST00000369850.7:c.5960T>C ENSP00000358866.3:p.Val1987Ala
ENST00000369856.7:c.5879T>C ENSP00000358872.4:p.Val1960Ala
ENST00000415241.1:c.145T>C
ENST00000420627.5:c.5916T>C ENSP00000408921.1:n.5916T>C
ENST00000422373.5:c.5936T>C ENSP00000416926.1:p.Val1979Ala
ENST00000438732.2:c.634T>C
ENST00000466325.1:n.99T>C
ENST00000490936.5:n.1949T>C
ENST00000610817.4:c.5844+35T>C ENSP00000480593.1:n.5844+35T>C
NM_001110556.1:c.5960T>C NP_001104026.1:p.Val1987Ala
NM_001456.3:c.5936T>C NP_001447.2:p.Val1979Ala
XM_011531127.1:c.5864T>C XP_011529429.1:p.Val1955Ala
XM_011531128.1:c.5840T>C XP_011529430.1:p.Val1947Ala
XM_011531129.1:c.5786T>C XP_011529431.1:p.Val1929Ala
XM_011531130.1:c.5762T>C XP_011529432.1:p.Val1921Ala
XM_011531131.1:c.5759T>C XP_011529433.1:p.Val1920Ala
NM_001110556.2:c.5960T>C MANE Select NP_001104026.1:p.Val1987Ala
NM_001456.4:c.5936T>C NP_001447.2:p.Val1979Ala