Canonical Allele Identifier: CA415195025

Gene: FLNA

Linked Data

• ClinVar Variation Id: 1414243
• ClinVar RCV Id: RCV001928595
• dbSNP Id: rs2067633067
• gnomAD v4: X-154353012-G-C
• MyVariant Identifiers: chrX:g.153581380G>C (hg19) ; chrX:g.154353012G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154353012G>C , CM000685.2:g.154353012G>C	GRCh38
NC_000023.10:g.153581380G>C , CM000685.1:g.153581380G>C	GRCh37
NC_000023.9:g.153234574G>C	NCBI36
NG_011506.1:g.26627C>G
NG_011506.2:g.26627C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6191C>G	ENSP00000353467.4:p.Thr2064Ser
ENST00000369850.10:c.6215C>G MANE Select	ENSP00000358866.3:p.Thr2072Ser
ENST00000369856.8:c.6134C>G	ENSP00000358872.4:p.Thr2045Ser
ENST00000422373.6:c.3161-337C>G	ENSP00000416926.2:n.3161-337C>G
ENST00000610817.5:c.6272C>G	ENSP00000480593.2:n.6272C>G
ENST00000673639.2:c.280-4322C>G
ENST00000676696.1:c.6494C>G	ENSP00000503392.1:n.6494C>G
ENST00000678304.1:n.1394C>G
ENST00000344736.8:c.6095C>G	ENSP00000358863.3:p.Thr2032Ser
ENST00000360319.8:c.6191C>G	ENSP00000353467.4:p.Thr2064Ser
ENST00000369850.7:c.6215C>G	ENSP00000358866.3:p.Thr2072Ser
ENST00000369856.7:c.6134C>G	ENSP00000358872.4:p.Thr2045Ser
ENST00000415241.1:c.417C>G
ENST00000420627.5:c.6171C>G	ENSP00000408921.1:n.6171C>G
ENST00000422373.5:c.6191C>G	ENSP00000416926.1:p.Thr2064Ser
ENST00000444578.1:c.158C>G	ENSP00000397824.1:p.Thr53Ser
ENST00000466325.1:n.354C>G
ENST00000490936.5:n.2204C>G
ENST00000610817.4:c.5844+381C>G	ENSP00000480593.1:n.5844+381C>G
NM_001110556.1:c.6215C>G	NP_001104026.1:p.Thr2072Ser
NM_001456.3:c.6191C>G	NP_001447.2:p.Thr2064Ser
XM_011531127.1:c.6119C>G	XP_011529429.1:p.Thr2040Ser
XM_011531128.1:c.6095C>G	XP_011529430.1:p.Thr2032Ser
XM_011531129.1:c.6041C>G	XP_011529431.1:p.Thr2014Ser
XM_011531130.1:c.6017C>G	XP_011529432.1:p.Thr2006Ser
XM_011531131.1:c.6014C>G	XP_011529433.1:p.Thr2005Ser
NM_001110556.2:c.6215C>G MANE Select	NP_001104026.1:p.Thr2072Ser
NM_001456.4:c.6191C>G	NP_001447.2:p.Thr2064Ser