Canonical Allele Identifier: CA337272560

Gene: FLNA

Linked Data

• ClinVar Variation Id: 952392
• ClinVar RCV Id: RCV001224498
• dbSNP Id: rs929704371
• gnomAD v3: X-154348950-T-C
• gnomAD v4: X-154348950-T-C
• MyVariant Identifiers: chrX:g.153577318T>C (hg19) ; chrX:g.154348950T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154348950T>C , CM000685.2:g.154348950T>C	GRCh38
NC_000023.10:g.153577318T>C , CM000685.1:g.153577318T>C	GRCh37
NC_000023.9:g.153230512T>C	NCBI36
NG_011506.1:g.30689A>G
NG_011506.2:g.30689A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.7819A>G	ENSP00000353467.4:p.Ser2607Gly
ENST00000369850.10:c.7843A>G MANE Select	ENSP00000358866.3:p.Ser2615Gly
ENST00000369856.8:c.7762A>G	ENSP00000358872.4:p.Ser2588Gly
ENST00000422373.6:c.4624A>G	ENSP00000416926.2:p.Ser1542Gly
ENST00000610817.5:c.7900A>G	ENSP00000480593.2:n.7900A>G
ENST00000673639.2:c.280-260A>G
ENST00000676696.1:c.8122A>G	ENSP00000503392.1:n.8122A>G
ENST00000678304.1:n.3561A>G
ENST00000344736.8:c.7723A>G	ENSP00000358863.3:p.Ser2575Gly
ENST00000360319.8:c.7819A>G	ENSP00000353467.4:p.Ser2607Gly
ENST00000369850.7:c.7843A>G	ENSP00000358866.3:p.Ser2615Gly
ENST00000369856.7:c.7762A>G	ENSP00000358872.4:p.Ser2588Gly
ENST00000420627.5:c.7799A>G	ENSP00000408921.1:n.7799A>G
ENST00000422373.5:c.7819A>G	ENSP00000416926.1:p.Ser2607Gly
ENST00000462590.1:n.998A>G
ENST00000490936.5:n.5072A>G
ENST00000498411.1:n.68-120A>G
ENST00000498491.5:n.884A>G
ENST00000610817.4:c.6847A>G	ENSP00000480593.1:p.Ser2283Gly
NM_001110556.1:c.7843A>G	NP_001104026.1:p.Ser2615Gly
NM_001456.3:c.7819A>G	NP_001447.2:p.Ser2607Gly
XM_011531127.1:c.7747A>G	XP_011529429.1:p.Ser2583Gly
XM_011531128.1:c.7723A>G	XP_011529430.1:p.Ser2575Gly
XM_011531129.1:c.7669A>G	XP_011529431.1:p.Ser2557Gly
XM_011531130.1:c.7645A>G	XP_011529432.1:p.Ser2549Gly
XM_011531131.1:c.7642A>G	XP_011529433.1:p.Ser2548Gly
NM_001110556.2:c.7843A>G MANE Select	NP_001104026.1:p.Ser2615Gly
NM_001456.4:c.7819A>G	NP_001447.2:p.Ser2607Gly