Canonical Allele Identifier: CA415195078
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353015T>G , CM000685.2:g.154353015T>G GRCh38
NC_000023.10:g.153581383T>G , CM000685.1:g.153581383T>G GRCh37
NC_000023.9:g.153234577T>G NCBI36
NG_011506.1:g.26624A>C
NG_011506.2:g.26624A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6188A>C ENSP00000353467.4:p.Asp2063Ala
ENST00000369850.10:c.6212A>C MANE Select ENSP00000358866.3:p.Asp2071Ala
ENST00000369856.8:c.6131A>C ENSP00000358872.4:p.Asp2044Ala
ENST00000422373.6:c.3161-340A>C ENSP00000416926.2:n.3161-340A>C
ENST00000610817.5:c.6269A>C ENSP00000480593.2:n.6269A>C
ENST00000673639.2:c.280-4325A>C
ENST00000676696.1:c.6491A>C ENSP00000503392.1:n.6491A>C
ENST00000678304.1:n.1391A>C
ENST00000344736.8:c.6092A>C ENSP00000358863.3:p.Asp2031Ala
ENST00000360319.8:c.6188A>C ENSP00000353467.4:p.Asp2063Ala
ENST00000369850.7:c.6212A>C ENSP00000358866.3:p.Asp2071Ala
ENST00000369856.7:c.6131A>C ENSP00000358872.4:p.Asp2044Ala
ENST00000415241.1:c.414A>C
ENST00000420627.5:c.6168A>C ENSP00000408921.1:n.6168A>C
ENST00000422373.5:c.6188A>C ENSP00000416926.1:p.Asp2063Ala
ENST00000444578.1:c.155A>C ENSP00000397824.1:p.Asp52Ala
ENST00000466325.1:n.351A>C
ENST00000490936.5:n.2201A>C
ENST00000610817.4:c.5844+378A>C ENSP00000480593.1:n.5844+378A>C
NM_001110556.1:c.6212A>C NP_001104026.1:p.Asp2071Ala
NM_001456.3:c.6188A>C NP_001447.2:p.Asp2063Ala
XM_011531127.1:c.6116A>C XP_011529429.1:p.Asp2039Ala
XM_011531128.1:c.6092A>C XP_011529430.1:p.Asp2031Ala
XM_011531129.1:c.6038A>C XP_011529431.1:p.Asp2013Ala
XM_011531130.1:c.6014A>C XP_011529432.1:p.Asp2005Ala
XM_011531131.1:c.6011A>C XP_011529433.1:p.Asp2004Ala
NM_001110556.2:c.6212A>C MANE Select NP_001104026.1:p.Asp2071Ala
NM_001456.4:c.6188A>C NP_001447.2:p.Asp2063Ala