Canonical Allele Identifier: CA415196622
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353189G>A , CM000685.2:g.154353189G>A GRCh38
NC_000023.10:g.153581557G>A , CM000685.1:g.153581557G>A GRCh37
NC_000023.9:g.153234751G>A NCBI36
NG_011506.1:g.26450C>T
NG_011506.2:g.26450C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6014C>T ENSP00000353467.4:p.Pro2005Leu
ENST00000369850.10:c.6038C>T MANE Select ENSP00000358866.3:p.Pro2013Leu
ENST00000369856.8:c.5957C>T ENSP00000358872.4:p.Pro1986Leu
ENST00000422373.6:c.3161-514C>T ENSP00000416926.2:n.3161-514C>T
ENST00000610817.5:c.6095C>T ENSP00000480593.2:n.6095C>T
ENST00000673639.2:c.280-4499C>T
ENST00000676696.1:c.6317C>T ENSP00000503392.1:n.6317C>T
ENST00000678304.1:n.1217C>T
ENST00000344736.8:c.5918C>T ENSP00000358863.3:p.Pro1973Leu
ENST00000360319.8:c.6014C>T ENSP00000353467.4:p.Pro2005Leu
ENST00000369850.7:c.6038C>T ENSP00000358866.3:p.Pro2013Leu
ENST00000369856.7:c.5957C>T ENSP00000358872.4:p.Pro1986Leu
ENST00000415241.1:c.240C>T
ENST00000420627.5:c.5994C>T ENSP00000408921.1:n.5994C>T
ENST00000422373.5:c.6014C>T ENSP00000416926.1:p.Pro2005Leu
ENST00000466325.1:n.177C>T
ENST00000490936.5:n.2027C>T
ENST00000610817.4:c.5844+204C>T ENSP00000480593.1:n.5844+204C>T
NM_001110556.1:c.6038C>T NP_001104026.1:p.Pro2013Leu
NM_001456.3:c.6014C>T NP_001447.2:p.Pro2005Leu
XM_011531127.1:c.5942C>T XP_011529429.1:p.Pro1981Leu
XM_011531128.1:c.5918C>T XP_011529430.1:p.Pro1973Leu
XM_011531129.1:c.5864C>T XP_011529431.1:p.Pro1955Leu
XM_011531130.1:c.5840C>T XP_011529432.1:p.Pro1947Leu
XM_011531131.1:c.5837C>T XP_011529433.1:p.Pro1946Leu
NM_001110556.2:c.6038C>T MANE Select NP_001104026.1:p.Pro2013Leu
NM_001456.4:c.6014C>T NP_001447.2:p.Pro2005Leu