Canonical Allele Identifier: CA415237489
Gene: FLNA HGNC NCBI

Linked Data

ClinVar Variation Id: 1345937
ClinVar RCV Id: RCV002049983
dbSNP Id: rs2148114671

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154362733C>T , CM000685.2:g.154362733C>T GRCh38
NC_000023.10:g.153591101C>T , CM000685.1:g.153591101C>T GRCh37
NC_000023.9:g.153244295C>T NCBI36
NG_011506.1:g.16906G>A
NG_011506.2:g.16906G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360319.9:c.2332G>A ENSP00000353467.4:p.Gly778Arg
ENST00000369850.10:c.2332G>A MANE Select ENSP00000358866.3:p.Gly778Arg
ENST00000369856.8:c.2251G>A ENSP00000358872.4:p.Gly751Arg
ENST00000422373.6:c.2332G>A ENSP00000416926.2:p.Gly778Arg
ENST00000610817.5:c.2389G>A ENSP00000480593.2:n.2389G>A
ENST00000673639.2:c.279+2703G>A
ENST00000676696.1:c.2611G>A ENSP00000503392.1:n.2611G>A
ENST00000344736.8:c.2332G>A ENSP00000358863.3:p.Gly778Arg
ENST00000360319.8:c.2332G>A ENSP00000353467.4:p.Gly778Arg
ENST00000369850.7:c.2332G>A ENSP00000358866.3:p.Gly778Arg
ENST00000369856.7:c.2251G>A ENSP00000358872.4:p.Gly751Arg
ENST00000420627.5:c.2288G>A ENSP00000408921.1:n.2288G>A
ENST00000422373.5:c.2332G>A ENSP00000416926.1:p.Gly778Arg
ENST00000610817.4:c.2251G>A ENSP00000480593.1:p.Gly751Arg
NM_001110556.1:c.2332G>A NP_001104026.1:p.Gly778Arg
NM_001456.3:c.2332G>A NP_001447.2:p.Gly778Arg
XM_011531127.1:c.2332G>A XP_011529429.1:p.Gly778Arg
XM_011531128.1:c.2332G>A XP_011529430.1:p.Gly778Arg
XM_011531129.1:c.2332G>A XP_011529431.1:p.Gly778Arg
XM_011531130.1:c.2332G>A XP_011529432.1:p.Gly778Arg
XM_011531131.1:c.2131G>A XP_011529433.1:p.Gly711Arg
NM_001110556.2:c.2332G>A MANE Select NP_001104026.1:p.Gly778Arg
NM_001456.4:c.2332G>A NP_001447.2:p.Gly778Arg