Canonical Allele Identifier: CA10560384

Gene: FLNA

Linked Data

• ClinVar Variation Id: 449178
• ClinVar RCV Id: RCV000520883 ; RCV001084701 ; RCV004023535
• dbSNP Id: rs782555986
• ExAC: X:153583272 G / A
• gnomAD v2: X-153583272-G-A
• gnomAD v3: X-154354904-G-A
• gnomAD v4: X-154354904-G-A
• MyVariant Identifiers: chrX:g.153583272G>A (hg19) ; chrX:g.154354904G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154354904G>A , CM000685.2:g.154354904G>A	GRCh38
NC_000023.10:g.153583272G>A , CM000685.1:g.153583272G>A	GRCh37
NC_000023.9:g.153236466G>A	NCBI36
NG_011506.1:g.24735C>T
NG_011506.2:g.24735C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.5114C>T	ENSP00000353467.4:p.Thr1705Met
ENST00000369850.10:c.5138C>T MANE Select	ENSP00000358866.3:p.Thr1713Met
ENST00000369856.8:c.5057C>T	ENSP00000358872.4:p.Thr1686Met
ENST00000422373.6:c.3161-2229C>T	ENSP00000416926.2:n.3161-2229C>T
ENST00000610817.5:c.5195C>T	ENSP00000480593.2:n.5195C>T
ENST00000673639.2:c.280-6214C>T
ENST00000676696.1:c.5417C>T	ENSP00000503392.1:n.5417C>T
ENST00000678304.1:n.317C>T
ENST00000344736.8:c.5114C>T	ENSP00000358863.3:p.Thr1705Met
ENST00000360319.8:c.5114C>T	ENSP00000353467.4:p.Thr1705Met
ENST00000369850.7:c.5138C>T	ENSP00000358866.3:p.Thr1713Met
ENST00000369856.7:c.5057C>T	ENSP00000358872.4:p.Thr1686Met
ENST00000420627.5:c.5094C>T	ENSP00000408921.1:n.5094C>T
ENST00000422373.5:c.5114C>T	ENSP00000416926.1:p.Thr1705Met
ENST00000490936.5:n.1127C>T
ENST00000610817.4:c.5057C>T	ENSP00000480593.1:p.Thr1686Met
NM_001110556.1:c.5138C>T	NP_001104026.1:p.Thr1713Met
NM_001456.3:c.5114C>T	NP_001447.2:p.Thr1705Met
XM_011531127.1:c.5138C>T	XP_011529429.1:p.Thr1713Met
XM_011531128.1:c.5114C>T	XP_011529430.1:p.Thr1705Met
XM_011531129.1:c.5138C>T	XP_011529431.1:p.Thr1713Met
XM_011531130.1:c.5114C>T	XP_011529432.1:p.Thr1705Met
XM_011531131.1:c.4937C>T	XP_011529433.1:p.Thr1646Met
NM_001110556.2:c.5138C>T MANE Select	NP_001104026.1:p.Thr1713Met
NM_001456.4:c.5114C>T	NP_001447.2:p.Thr1705Met