Canonical Allele Identifier: CA415196591
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353185C>A , CM000685.2:g.154353185C>A GRCh38
NC_000023.10:g.153581553C>A , CM000685.1:g.153581553C>A GRCh37
NC_000023.9:g.153234747C>A NCBI36
NG_011506.1:g.26454G>T
NG_011506.2:g.26454G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6018G>T ENSP00000353467.4:p.Lys2006Asn
ENST00000369850.10:c.6042G>T MANE Select ENSP00000358866.3:p.Lys2014Asn
ENST00000369856.8:c.5961G>T ENSP00000358872.4:p.Lys1987Asn
ENST00000422373.6:c.3161-510G>T ENSP00000416926.2:n.3161-510G>T
ENST00000610817.5:c.6099G>T ENSP00000480593.2:n.6099G>T
ENST00000673639.2:c.280-4495G>T
ENST00000676696.1:c.6321G>T ENSP00000503392.1:n.6321G>T
ENST00000678304.1:n.1221G>T
ENST00000344736.8:c.5922G>T ENSP00000358863.3:p.Lys1974Asn
ENST00000360319.8:c.6018G>T ENSP00000353467.4:p.Lys2006Asn
ENST00000369850.7:c.6042G>T ENSP00000358866.3:p.Lys2014Asn
ENST00000369856.7:c.5961G>T ENSP00000358872.4:p.Lys1987Asn
ENST00000415241.1:c.244G>T
ENST00000420627.5:c.5998G>T ENSP00000408921.1:n.5998G>T
ENST00000422373.5:c.6018G>T ENSP00000416926.1:p.Lys2006Asn
ENST00000466325.1:n.181G>T
ENST00000490936.5:n.2031G>T
ENST00000610817.4:c.5844+208G>T ENSP00000480593.1:n.5844+208G>T
NM_001110556.1:c.6042G>T NP_001104026.1:p.Lys2014Asn
NM_001456.3:c.6018G>T NP_001447.2:p.Lys2006Asn
XM_011531127.1:c.5946G>T XP_011529429.1:p.Lys1982Asn
XM_011531128.1:c.5922G>T XP_011529430.1:p.Lys1974Asn
XM_011531129.1:c.5868G>T XP_011529431.1:p.Lys1956Asn
XM_011531130.1:c.5844G>T XP_011529432.1:p.Lys1948Asn
XM_011531131.1:c.5841G>T XP_011529433.1:p.Lys1947Asn
NM_001110556.2:c.6042G>T MANE Select NP_001104026.1:p.Lys2014Asn
NM_001456.4:c.6018G>T NP_001447.2:p.Lys2006Asn