Canonical Allele Identifier: CA337274823

Gene: FLNA

Linked Data

• ClinVar Variation Id: 2929606
• ClinVar RCV Id: RCV003784772
• dbSNP Id: rs1028791955
• gnomAD v3: X-154352772-C-A
• gnomAD v4: X-154352772-C-A
• MyVariant Identifiers: chrX:g.153581140C>A (hg19) ; chrX:g.154352772C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154352772C>A , CM000685.2:g.154352772C>A	GRCh38
NC_000023.10:g.153581140C>A , CM000685.1:g.153581140C>A	GRCh37
NC_000023.9:g.153234334C>A	NCBI36
NG_011506.1:g.26867G>T
NG_011506.2:g.26867G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6355G>T	ENSP00000353467.4:p.Gly2119Cys
ENST00000369850.10:c.6379G>T MANE Select	ENSP00000358866.3:p.Gly2127Cys
ENST00000369856.8:c.6298G>T	ENSP00000358872.4:p.Gly2100Cys
ENST00000422373.6:c.3161-97G>T	ENSP00000416926.2:n.3161-97G>T
ENST00000610817.5:c.6436G>T	ENSP00000480593.2:n.6436G>T
ENST00000673639.2:c.280-4082G>T
ENST00000676696.1:c.6658G>T	ENSP00000503392.1:n.6658G>T
ENST00000678304.1:n.1558G>T
ENST00000344736.8:c.6259G>T	ENSP00000358863.3:p.Gly2087Cys
ENST00000360319.8:c.6355G>T	ENSP00000353467.4:p.Gly2119Cys
ENST00000369850.7:c.6379G>T	ENSP00000358866.3:p.Gly2127Cys
ENST00000369856.7:c.6298G>T	ENSP00000358872.4:p.Gly2100Cys
ENST00000415241.1:c.581G>T
ENST00000420627.5:c.6335G>T	ENSP00000408921.1:n.6335G>T
ENST00000422373.5:c.6355G>T	ENSP00000416926.1:p.Gly2119Cys
ENST00000444578.1:c.322G>T	ENSP00000397824.1:p.Glu108Ter
ENST00000466325.1:n.594G>T
ENST00000474358.5:n.12G>T
ENST00000490936.5:n.2368G>T
ENST00000498411.1:n.67+45G>T
ENST00000610817.4:c.5844+621G>T	ENSP00000480593.1:n.5844+621G>T
NM_001110556.1:c.6379G>T	NP_001104026.1:p.Gly2127Cys
NM_001456.3:c.6355G>T	NP_001447.2:p.Gly2119Cys
XM_011531127.1:c.6283G>T	XP_011529429.1:p.Gly2095Cys
XM_011531128.1:c.6259G>T	XP_011529430.1:p.Gly2087Cys
XM_011531129.1:c.6205G>T	XP_011529431.1:p.Gly2069Cys
XM_011531130.1:c.6181G>T	XP_011529432.1:p.Gly2061Cys
XM_011531131.1:c.6178G>T	XP_011529433.1:p.Gly2060Cys
NM_001110556.2:c.6379G>T MANE Select	NP_001104026.1:p.Gly2127Cys
NM_001456.4:c.6355G>T	NP_001447.2:p.Gly2119Cys