Canonical Allele Identifier: CA415217237
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154359129A>C , CM000685.2:g.154359129A>C GRCh38
NC_000023.10:g.153587497A>C , CM000685.1:g.153587497A>C GRCh37
NC_000023.9:g.153240691A>C NCBI36
NG_011506.1:g.20510T>G
NG_011506.2:g.20510T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.4329T>G ENSP00000353467.4:p.His1443Gln
ENST00000369850.10:c.4329T>G MANE Select ENSP00000358866.3:p.His1443Gln
ENST00000369856.8:c.4248T>G ENSP00000358872.4:p.His1416Gln
ENST00000422373.6:c.3160+2226T>G ENSP00000416926.2:n.3160+2226T>G
ENST00000610817.5:c.4386T>G ENSP00000480593.2:n.4386T>G
ENST00000673639.2:c.279+6307T>G
ENST00000676696.1:c.4608T>G ENSP00000503392.1:n.4608T>G
ENST00000678304.1:n.108T>G
ENST00000344736.8:c.4329T>G ENSP00000358863.3:p.His1443Gln
ENST00000360319.8:c.4329T>G ENSP00000353467.4:p.His1443Gln
ENST00000369850.7:c.4329T>G ENSP00000358866.3:p.His1443Gln
ENST00000369856.7:c.4248T>G ENSP00000358872.4:p.His1416Gln
ENST00000420627.5:c.4285T>G ENSP00000408921.1:n.4285T>G
ENST00000422373.5:c.4329T>G ENSP00000416926.1:p.His1443Gln
ENST00000490936.5:n.342T>G
ENST00000610817.4:c.4248T>G ENSP00000480593.1:p.His1416Gln
NM_001110556.1:c.4329T>G NP_001104026.1:p.His1443Gln
NM_001456.3:c.4329T>G NP_001447.2:p.His1443Gln
XM_011531127.1:c.4329T>G XP_011529429.1:p.His1443Gln
XM_011531128.1:c.4329T>G XP_011529430.1:p.His1443Gln
XM_011531129.1:c.4329T>G XP_011529431.1:p.His1443Gln
XM_011531130.1:c.4329T>G XP_011529432.1:p.His1443Gln
XM_011531131.1:c.4128T>G XP_011529433.1:p.His1376Gln
NM_001110556.2:c.4329T>G MANE Select NP_001104026.1:p.His1443Gln
NM_001456.4:c.4329T>G NP_001447.2:p.His1443Gln