Canonical Allele Identifier: CA415185222

Gene: FLNA

Linked Data

• ClinVar Variation Id: 533567
• ClinVar RCV Id: RCV002233041 ; RCV002360567
• dbSNP Id: rs1557175646
• gnomAD v2: X-153579378-G-A
• gnomAD v4: X-154351010-G-A
• MyVariant Identifiers: chrX:g.153579378G>A (hg19) ; chrX:g.154351010G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154351010G>A , CM000685.2:g.154351010G>A	GRCh38
NC_000023.10:g.153579378G>A , CM000685.1:g.153579378G>A	GRCh37
NC_000023.9:g.153232572G>A	NCBI36
NG_011506.1:g.28629C>T
NG_011506.2:g.28629C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.7031C>T	ENSP00000353467.4:p.Ser2344Phe
ENST00000369850.10:c.7055C>T MANE Select	ENSP00000358866.3:p.Ser2352Phe
ENST00000369856.8:c.6974C>T	ENSP00000358872.4:p.Ser2325Phe
ENST00000422373.6:c.3836C>T	ENSP00000416926.2:p.Ser1279Phe
ENST00000610817.5:c.7112C>T	ENSP00000480593.2:n.7112C>T
ENST00000673639.2:c.280-2320C>T
ENST00000676696.1:c.7334C>T	ENSP00000503392.1:n.7334C>T
ENST00000678304.1:n.2773C>T
ENST00000344736.8:c.6935C>T	ENSP00000358863.3:p.Ser2312Phe
ENST00000360319.8:c.7031C>T	ENSP00000353467.4:p.Ser2344Phe
ENST00000369850.7:c.7055C>T	ENSP00000358866.3:p.Ser2352Phe
ENST00000369856.7:c.6974C>T	ENSP00000358872.4:p.Ser2325Phe
ENST00000420627.5:c.7011C>T	ENSP00000408921.1:n.7011C>T
ENST00000422373.5:c.7031C>T	ENSP00000416926.1:p.Ser2344Phe
ENST00000490936.5:n.3583C>T
ENST00000498411.1:n.67+1807C>T
ENST00000498491.5:n.96C>T
ENST00000610817.4:c.6059C>T	ENSP00000480593.1:p.Ser2020Phe
NM_001110556.1:c.7055C>T	NP_001104026.1:p.Ser2352Phe
NM_001456.3:c.7031C>T	NP_001447.2:p.Ser2344Phe
XM_011531127.1:c.6959C>T	XP_011529429.1:p.Ser2320Phe
XM_011531128.1:c.6935C>T	XP_011529430.1:p.Ser2312Phe
XM_011531129.1:c.6881C>T	XP_011529431.1:p.Ser2294Phe
XM_011531130.1:c.6857C>T	XP_011529432.1:p.Ser2286Phe
XM_011531131.1:c.6854C>T	XP_011529433.1:p.Ser2285Phe
NM_001110556.2:c.7055C>T MANE Select	NP_001104026.1:p.Ser2352Phe
NM_001456.4:c.7031C>T	NP_001447.2:p.Ser2344Phe