Canonical Allele Identifier: CA16043290
Gene: FLNA HGNC NCBI

Linked Data

ClinVar Variation Id: 372971
ClinVar RCV Id: RCV000412807
dbSNP Id: rs1057518109

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154367729G>C , CM000685.2:g.154367729G>C GRCh38
NC_000023.10:g.153596097G>C , CM000685.1:g.153596097G>C GRCh37
NC_000023.9:g.153249291G>C NCBI36
NG_011506.1:g.11910C>G
NG_011506.2:g.11910C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000360319.9:c.632C>G ENSP00000353467.4:p.Pro211Arg
ENST00000369850.10:c.632C>G MANE Select ENSP00000358866.3:p.Pro211Arg
ENST00000369856.8:c.551C>G ENSP00000358872.4:p.Pro184Arg
ENST00000422373.6:c.632C>G ENSP00000416926.2:p.Pro211Arg
ENST00000610817.5:c.632C>G ENSP00000480593.2:p.Pro211Arg
ENST00000676696.1:c.632C>G ENSP00000503392.1:p.Pro211Arg
ENST00000344736.8:c.632C>G ENSP00000358863.3:p.Pro211Arg
ENST00000360319.8:c.632C>G ENSP00000353467.4:p.Pro211Arg
ENST00000369850.7:c.632C>G ENSP00000358866.3:p.Pro211Arg
ENST00000369856.7:c.551C>G ENSP00000358872.4:p.Pro184Arg
ENST00000420627.5:c.590C>G ENSP00000408921.1:p.Pro197Arg
ENST00000422373.5:c.632C>G ENSP00000416926.1:p.Pro211Arg
ENST00000610817.4:c.551C>G ENSP00000480593.1:p.Pro184Arg
NM_001110556.1:c.632C>G NP_001104026.1:p.Pro211Arg
NM_001456.3:c.632C>G NP_001447.2:p.Pro211Arg
XM_011531127.1:c.632C>G XP_011529429.1:p.Pro211Arg
XM_011531128.1:c.632C>G XP_011529430.1:p.Pro211Arg
XM_011531129.1:c.632C>G XP_011529431.1:p.Pro211Arg
XM_011531130.1:c.632C>G XP_011529432.1:p.Pro211Arg
XM_011531131.1:c.632C>G XP_011529433.1:p.Pro211Arg
NM_001110556.2:c.632C>G MANE Select NP_001104026.1:p.Pro211Arg
NM_001456.4:c.632C>G NP_001447.2:p.Pro211Arg