Canonical Allele Identifier: CA415196973
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353307T>A , CM000685.2:g.154353307T>A GRCh38
NC_000023.10:g.153581675T>A , CM000685.1:g.153581675T>A GRCh37
NC_000023.9:g.153234869T>A NCBI36
NG_011506.1:g.26332A>T
NG_011506.2:g.26332A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.5987A>T ENSP00000353467.4:p.Asn1996Ile
ENST00000369850.10:c.6011A>T MANE Select ENSP00000358866.3:p.Asn2004Ile
ENST00000369856.8:c.5930A>T ENSP00000358872.4:p.Asn1977Ile
ENST00000422373.6:c.3161-632A>T ENSP00000416926.2:n.3161-632A>T
ENST00000610817.5:c.6068A>T ENSP00000480593.2:n.6068A>T
ENST00000673639.2:c.280-4617A>T
ENST00000676696.1:c.6290A>T ENSP00000503392.1:n.6290A>T
ENST00000678304.1:n.1190A>T
ENST00000344736.8:c.5891A>T ENSP00000358863.3:p.Asn1964Ile
ENST00000360319.8:c.5987A>T ENSP00000353467.4:p.Asn1996Ile
ENST00000369850.7:c.6011A>T ENSP00000358866.3:p.Asn2004Ile
ENST00000369856.7:c.5930A>T ENSP00000358872.4:p.Asn1977Ile
ENST00000415241.1:c.196A>T
ENST00000420627.5:c.5967A>T ENSP00000408921.1:n.5967A>T
ENST00000422373.5:c.5987A>T ENSP00000416926.1:p.Asn1996Ile
ENST00000438732.2:c.685A>T
ENST00000466325.1:n.150A>T
ENST00000490936.5:n.2000A>T
ENST00000610817.4:c.5844+86A>T ENSP00000480593.1:n.5844+86A>T
NM_001110556.1:c.6011A>T NP_001104026.1:p.Asn2004Ile
NM_001456.3:c.5987A>T NP_001447.2:p.Asn1996Ile
XM_011531127.1:c.5915A>T XP_011529429.1:p.Asn1972Ile
XM_011531128.1:c.5891A>T XP_011529430.1:p.Asn1964Ile
XM_011531129.1:c.5837A>T XP_011529431.1:p.Asn1946Ile
XM_011531130.1:c.5813A>T XP_011529432.1:p.Asn1938Ile
XM_011531131.1:c.5810A>T XP_011529433.1:p.Asn1937Ile
NM_001110556.2:c.6011A>T MANE Select NP_001104026.1:p.Asn2004Ile
NM_001456.4:c.5987A>T NP_001447.2:p.Asn1996Ile