Canonical Allele Identifier: CA519706258
Community Standard Title: NM_001110556.2(FLNA):c.6564C>G (p.Ala2188=)
Gene: FLNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352386G>C , CM000685.2:g.154352386G>C GRCh38
NC_000023.10:g.153580754G>C , CM000685.1:g.153580754G>C GRCh37
NC_000023.9:g.153233948G>C NCBI36
NG_011506.1:g.27253C>G
NG_011506.2:g.27253C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001110556.2:c.6564C>G MANE Select NP_001104026.1:p.Ala2188=
ENST00000369850.10:c.6564C>G MANE Select ENSP00000358866.3:p.Ala2188=
NM_001110556.1:c.6564C>G NP_001104026.1:p.Ala2188=
NM_001456.3:c.6540C>G NP_001447.2:p.Ala2180=
NM_001456.4:c.6540C>G NP_001447.2:p.Ala2180=
ENST00000344736.8:c.6444C>G ENSP00000358863.3:p.Ala2148=
ENST00000360319.8:c.6540C>G ENSP00000353467.4:p.Ala2180=
ENST00000360319.9:c.6540C>G ENSP00000353467.4:p.Ala2180=
ENST00000369850.7:c.6564C>G ENSP00000358866.3:p.Ala2188=
ENST00000369856.7:c.6483C>G ENSP00000358872.4:p.Ala2161=
ENST00000369856.8:c.6483C>G ENSP00000358872.4:p.Ala2161=
ENST00000420627.5:c.6520C>G ENSP00000408921.1:n.6520C>G
ENST00000422373.5:c.6540C>G ENSP00000416926.1:p.Ala2180=
ENST00000422373.6:c.3345C>G ENSP00000416926.2:p.Ala1115=
ENST00000444578.1:c.384C>G ENSP00000397824.1:p.Ala128=
ENST00000474358.5:n.197C>G
ENST00000490936.5:n.2553C>G
ENST00000498411.1:n.67+431C>G
ENST00000610817.4:c.5845-436C>G ENSP00000480593.1:n.5845-436C>G
ENST00000610817.5:c.6621C>G ENSP00000480593.2:n.6621C>G
ENST00000673639.2:c.280-3696C>G
ENST00000676696.1:c.6843C>G ENSP00000503392.1:n.6843C>G
ENST00000678304.1:n.1743C>G
XM_011531127.1:c.6468C>G XP_011529429.1:p.Ala2156=
XM_011531128.1:c.6444C>G XP_011529430.1:p.Ala2148=
XM_011531129.1:c.6390C>G XP_011529431.1:p.Ala2130=
XM_011531130.1:c.6366C>G XP_011529432.1:p.Ala2122=
XM_011531131.1:c.6363C>G XP_011529433.1:p.Ala2121=