Canonical Allele Identifier: CA274741
Gene: FLNA HGNC NCBI

Linked Data

ClinVar Variation Id: 190198
ClinVar RCV Id: RCV000170419
dbSNP Id: rs786205197

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154357444G>T , CM000685.2:g.154357444G>T GRCh38
NC_000023.10:g.153585812G>T , CM000685.1:g.153585812G>T GRCh37
NC_000023.9:g.153239006G>T NCBI36
NG_011506.1:g.22195C>A
NG_011506.2:g.22195C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360319.9:c.4935C>A ENSP00000353467.4:p.Cys1645Ter
ENST00000369850.10:c.4935C>A MANE Select ENSP00000358866.3:p.Cys1645Ter
ENST00000369856.8:c.4854C>A ENSP00000358872.4:p.Cys1618Ter
ENST00000422373.6:c.3160+3911C>A ENSP00000416926.2:n.3160+3911C>A
ENST00000610817.5:c.4992C>A ENSP00000480593.2:n.4992C>A
ENST00000673639.2:c.279+7992C>A
ENST00000676696.1:c.5214C>A ENSP00000503392.1:n.5214C>A
ENST00000678304.1:n.148+1645C>A
ENST00000344736.8:c.4935C>A ENSP00000358863.3:p.Cys1645Ter
ENST00000360319.8:c.4935C>A ENSP00000353467.4:p.Cys1645Ter
ENST00000369850.7:c.4935C>A ENSP00000358866.3:p.Cys1645Ter
ENST00000369856.7:c.4854C>A ENSP00000358872.4:p.Cys1618Ter
ENST00000420627.5:c.4891C>A ENSP00000408921.1:n.4891C>A
ENST00000422373.5:c.4935C>A ENSP00000416926.1:p.Cys1645Ter
ENST00000490936.5:n.948C>A
ENST00000610817.4:c.4854C>A ENSP00000480593.1:p.Cys1618Ter
NM_001110556.1:c.4935C>A NP_001104026.1:p.Cys1645Ter
NM_001456.3:c.4935C>A NP_001447.2:p.Cys1645Ter
XM_011531127.1:c.4935C>A XP_011529429.1:p.Cys1645Ter
XM_011531128.1:c.4935C>A XP_011529430.1:p.Cys1645Ter
XM_011531129.1:c.4935C>A XP_011529431.1:p.Cys1645Ter
XM_011531130.1:c.4935C>A XP_011529432.1:p.Cys1645Ter
XM_011531131.1:c.4734C>A XP_011529433.1:p.Cys1578Ter
NM_001110556.2:c.4935C>A MANE Select NP_001104026.1:p.Cys1645Ter
NM_001456.4:c.4935C>A NP_001447.2:p.Cys1645Ter