Canonical Allele Identifier: CA10560130

Gene: FLNA

Linked Data

• ClinVar Variation Id: 1752226
• ClinVar RCV Id: RCV002353875 ; RCV003776229
• dbSNP Id: rs782785245
• ExAC: X:153581285 A / G
• gnomAD v2: X-153581285-A-G
• gnomAD v4: X-154352917-A-G
• MyVariant Identifiers: chrX:g.153581285A>G (hg19) ; chrX:g.154352917A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154352917A>G , CM000685.2:g.154352917A>G	GRCh38
NC_000023.10:g.153581285A>G , CM000685.1:g.153581285A>G	GRCh37
NC_000023.9:g.153234479A>G	NCBI36
NG_011506.1:g.26722T>C
NG_011506.2:g.26722T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360319.9:c.6210T>C	ENSP00000353467.4:p.Gly2070=
ENST00000369850.10:c.6234T>C MANE Select	ENSP00000358866.3:p.Gly2078=
ENST00000369856.8:c.6153T>C	ENSP00000358872.4:p.Gly2051=
ENST00000422373.6:c.3161-242T>C	ENSP00000416926.2:n.3161-242T>C
ENST00000610817.5:c.6291T>C	ENSP00000480593.2:n.6291T>C
ENST00000673639.2:c.280-4227T>C
ENST00000676696.1:c.6513T>C	ENSP00000503392.1:n.6513T>C
ENST00000678304.1:n.1413T>C
ENST00000344736.8:c.6114T>C	ENSP00000358863.3:p.Gly2038=
ENST00000360319.8:c.6210T>C	ENSP00000353467.4:p.Gly2070=
ENST00000369850.7:c.6234T>C	ENSP00000358866.3:p.Gly2078=
ENST00000369856.7:c.6153T>C	ENSP00000358872.4:p.Gly2051=
ENST00000415241.1:c.436T>C
ENST00000420627.5:c.6190T>C	ENSP00000408921.1:n.6190T>C
ENST00000422373.5:c.6210T>C	ENSP00000416926.1:p.Gly2070=
ENST00000444578.1:c.177T>C	ENSP00000397824.1:p.Gly59=
ENST00000466325.1:n.449T>C
ENST00000490936.5:n.2223T>C
ENST00000610817.4:c.5844+476T>C	ENSP00000480593.1:n.5844+476T>C
NM_001110556.1:c.6234T>C	NP_001104026.1:p.Gly2078=
NM_001456.3:c.6210T>C	NP_001447.2:p.Gly2070=
XM_011531127.1:c.6138T>C	XP_011529429.1:p.Gly2046=
XM_011531128.1:c.6114T>C	XP_011529430.1:p.Gly2038=
XM_011531129.1:c.6060T>C	XP_011529431.1:p.Gly2020=
XM_011531130.1:c.6036T>C	XP_011529432.1:p.Gly2012=
XM_011531131.1:c.6033T>C	XP_011529433.1:p.Gly2011=
NM_001110556.2:c.6234T>C MANE Select	NP_001104026.1:p.Gly2078=
NM_001456.4:c.6210T>C	NP_001447.2:p.Gly2070=