Canonical Allele Identifier: CA10559978
Community Standard Title: NM_001110556.2(FLNA):c.6991G>A (p.Asp2331Asn)
Gene: FLNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154351613C>T , CM000685.2:g.154351613C>T GRCh38
NC_000023.10:g.153579981C>T , CM000685.1:g.153579981C>T GRCh37
NC_000023.9:g.153233175C>T NCBI36
NG_011506.1:g.28026G>A
NG_011506.2:g.28026G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001110556.2:c.6991G>A MANE Select NP_001104026.1:p.Asp2331Asn
ENST00000369850.10:c.6991G>A MANE Select ENSP00000358866.3:p.Asp2331Asn
NM_001110556.1:c.6991G>A NP_001104026.1:p.Asp2331Asn
NM_001456.3:c.6967G>A NP_001447.2:p.Asp2323Asn
NM_001456.4:c.6967G>A NP_001447.2:p.Asp2323Asn
ENST00000344736.8:c.6871G>A ENSP00000358863.3:p.Asp2291Asn
ENST00000360319.8:c.6967G>A ENSP00000353467.4:p.Asp2323Asn
ENST00000360319.9:c.6967G>A ENSP00000353467.4:p.Asp2323Asn
ENST00000369850.7:c.6991G>A ENSP00000358866.3:p.Asp2331Asn
ENST00000369856.7:c.6910G>A ENSP00000358872.4:p.Asp2304Asn
ENST00000369856.8:c.6910G>A ENSP00000358872.4:p.Asp2304Asn
ENST00000420627.5:c.6947G>A ENSP00000408921.1:n.6947G>A
ENST00000422373.5:c.6967G>A ENSP00000416926.1:p.Asp2323Asn
ENST00000422373.6:c.3772G>A ENSP00000416926.2:p.Asp1258Asn
ENST00000444578.1:c.811G>A ENSP00000397824.1:p.Asp271Asn
ENST00000490936.5:n.2980G>A
ENST00000498411.1:n.67+1204G>A
ENST00000610817.4:c.5995G>A ENSP00000480593.1:p.Asp1999Asn
ENST00000610817.5:c.7048G>A ENSP00000480593.2:n.7048G>A
ENST00000673639.2:c.280-2923G>A
ENST00000676696.1:c.7270G>A ENSP00000503392.1:n.7270G>A
ENST00000678304.1:n.2170G>A
XM_011531127.1:c.6895G>A XP_011529429.1:p.Asp2299Asn
XM_011531128.1:c.6871G>A XP_011529430.1:p.Asp2291Asn
XM_011531129.1:c.6817G>A XP_011529431.1:p.Asp2273Asn
XM_011531130.1:c.6793G>A XP_011529432.1:p.Asp2265Asn
XM_011531131.1:c.6790G>A XP_011529433.1:p.Asp2264Asn