Canonical Allele Identifier: CA322832
Gene: FLNA HGNC NCBI

Linked Data

ClinVar Variation Id: 213501
ClinVar RCV Id: RCV000198332
dbSNP Id: rs863223637

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154362735G>C , CM000685.2:g.154362735G>C GRCh38
NC_000023.10:g.153591103G>C , CM000685.1:g.153591103G>C GRCh37
NC_000023.9:g.153244297G>C NCBI36
NG_011506.1:g.16904C>G
NG_011506.2:g.16904C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000360319.9:c.2330C>G ENSP00000353467.4:p.Pro777Arg
ENST00000369850.10:c.2330C>G MANE Select ENSP00000358866.3:p.Pro777Arg
ENST00000369856.8:c.2249C>G ENSP00000358872.4:p.Pro750Arg
ENST00000422373.6:c.2330C>G ENSP00000416926.2:p.Pro777Arg
ENST00000610817.5:c.2387C>G ENSP00000480593.2:n.2387C>G
ENST00000673639.2:c.279+2701C>G
ENST00000676696.1:c.2609C>G ENSP00000503392.1:n.2609C>G
ENST00000344736.8:c.2330C>G ENSP00000358863.3:p.Pro777Arg
ENST00000360319.8:c.2330C>G ENSP00000353467.4:p.Pro777Arg
ENST00000369850.7:c.2330C>G ENSP00000358866.3:p.Pro777Arg
ENST00000369856.7:c.2249C>G ENSP00000358872.4:p.Pro750Arg
ENST00000420627.5:c.2286C>G ENSP00000408921.1:n.2286C>G
ENST00000422373.5:c.2330C>G ENSP00000416926.1:p.Pro777Arg
ENST00000610817.4:c.2249C>G ENSP00000480593.1:p.Pro750Arg
NM_001110556.1:c.2330C>G NP_001104026.1:p.Pro777Arg
NM_001456.3:c.2330C>G NP_001447.2:p.Pro777Arg
XM_011531127.1:c.2330C>G XP_011529429.1:p.Pro777Arg
XM_011531128.1:c.2330C>G XP_011529430.1:p.Pro777Arg
XM_011531129.1:c.2330C>G XP_011529431.1:p.Pro777Arg
XM_011531130.1:c.2330C>G XP_011529432.1:p.Pro777Arg
XM_011531131.1:c.2129C>G XP_011529433.1:p.Pro710Arg
NM_001110556.2:c.2330C>G MANE Select NP_001104026.1:p.Pro777Arg
NM_001456.4:c.2330C>G NP_001447.2:p.Pro777Arg