Canonical Allele Identifier: CA415197250
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353332G>C , CM000685.2:g.154353332G>C GRCh38
NC_000023.10:g.153581700G>C , CM000685.1:g.153581700G>C GRCh37
NC_000023.9:g.153234894G>C NCBI36
NG_011506.1:g.26307C>G
NG_011506.2:g.26307C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.5962C>G ENSP00000353467.4:p.Pro1988Ala
ENST00000369850.10:c.5986C>G MANE Select ENSP00000358866.3:p.Pro1996Ala
ENST00000369856.8:c.5905C>G ENSP00000358872.4:p.Pro1969Ala
ENST00000422373.6:c.3161-657C>G ENSP00000416926.2:n.3161-657C>G
ENST00000610817.5:c.6043C>G ENSP00000480593.2:n.6043C>G
ENST00000673639.2:c.280-4642C>G
ENST00000676696.1:c.6265C>G ENSP00000503392.1:n.6265C>G
ENST00000678304.1:n.1165C>G
ENST00000344736.8:c.5866C>G ENSP00000358863.3:p.Pro1956Ala
ENST00000360319.8:c.5962C>G ENSP00000353467.4:p.Pro1988Ala
ENST00000369850.7:c.5986C>G ENSP00000358866.3:p.Pro1996Ala
ENST00000369856.7:c.5905C>G ENSP00000358872.4:p.Pro1969Ala
ENST00000415241.1:c.171C>G
ENST00000420627.5:c.5942C>G ENSP00000408921.1:n.5942C>G
ENST00000422373.5:c.5962C>G ENSP00000416926.1:p.Pro1988Ala
ENST00000438732.2:c.660C>G
ENST00000466325.1:n.125C>G
ENST00000490936.5:n.1975C>G
ENST00000610817.4:c.5844+61C>G ENSP00000480593.1:n.5844+61C>G
NM_001110556.1:c.5986C>G NP_001104026.1:p.Pro1996Ala
NM_001456.3:c.5962C>G NP_001447.2:p.Pro1988Ala
XM_011531127.1:c.5890C>G XP_011529429.1:p.Pro1964Ala
XM_011531128.1:c.5866C>G XP_011529430.1:p.Pro1956Ala
XM_011531129.1:c.5812C>G XP_011529431.1:p.Pro1938Ala
XM_011531130.1:c.5788C>G XP_011529432.1:p.Pro1930Ala
XM_011531131.1:c.5785C>G XP_011529433.1:p.Pro1929Ala
NM_001110556.2:c.5986C>G MANE Select NP_001104026.1:p.Pro1996Ala
NM_001456.4:c.5962C>G NP_001447.2:p.Pro1988Ala