Canonical Allele Identifier: CA415195569
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353058G>C , CM000685.2:g.154353058G>C GRCh38
NC_000023.10:g.153581426G>C , CM000685.1:g.153581426G>C GRCh37
NC_000023.9:g.153234620G>C NCBI36
NG_011506.1:g.26581C>G
NG_011506.2:g.26581C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6145C>G ENSP00000353467.4:p.Leu2049Val
ENST00000369850.10:c.6169C>G MANE Select ENSP00000358866.3:p.Leu2057Val
ENST00000369856.8:c.6088C>G ENSP00000358872.4:p.Leu2030Val
ENST00000422373.6:c.3161-383C>G ENSP00000416926.2:n.3161-383C>G
ENST00000610817.5:c.6226C>G ENSP00000480593.2:n.6226C>G
ENST00000673639.2:c.280-4368C>G
ENST00000676696.1:c.6448C>G ENSP00000503392.1:n.6448C>G
ENST00000678304.1:n.1348C>G
ENST00000344736.8:c.6049C>G ENSP00000358863.3:p.Leu2017Val
ENST00000360319.8:c.6145C>G ENSP00000353467.4:p.Leu2049Val
ENST00000369850.7:c.6169C>G ENSP00000358866.3:p.Leu2057Val
ENST00000369856.7:c.6088C>G ENSP00000358872.4:p.Leu2030Val
ENST00000415241.1:c.371C>G
ENST00000420627.5:c.6125C>G ENSP00000408921.1:n.6125C>G
ENST00000422373.5:c.6145C>G ENSP00000416926.1:p.Leu2049Val
ENST00000444578.1:c.112C>G ENSP00000397824.1:p.Leu38Val
ENST00000466325.1:n.308C>G
ENST00000490936.5:n.2158C>G
ENST00000610817.4:c.5844+335C>G ENSP00000480593.1:n.5844+335C>G
NM_001110556.1:c.6169C>G NP_001104026.1:p.Leu2057Val
NM_001456.3:c.6145C>G NP_001447.2:p.Leu2049Val
XM_011531127.1:c.6073C>G XP_011529429.1:p.Leu2025Val
XM_011531128.1:c.6049C>G XP_011529430.1:p.Leu2017Val
XM_011531129.1:c.5995C>G XP_011529431.1:p.Leu1999Val
XM_011531130.1:c.5971C>G XP_011529432.1:p.Leu1991Val
XM_011531131.1:c.5968C>G XP_011529433.1:p.Leu1990Val
NM_001110556.2:c.6169C>G MANE Select NP_001104026.1:p.Leu2057Val
NM_001456.4:c.6145C>G NP_001447.2:p.Leu2049Val