Canonical Allele Identifier: CA341132

Gene: FLNA

Linked Data

• ClinVar Variation Id: 11759
• ClinVar RCV Id: RCV000012525 ; RCV001382364
• dbSNP Id: rs28935473
• COSMIC: COSM5730730 ; COSM5730731
• MyVariant Identifiers: chrX:g.153588567G>A (hg19) ; chrX:g.154360199G>A (hg38)
• PubMed: PMID:12612583 ; PMID:15917206 ; PMID:16538226 ; PMID:20301567

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154360199G>A , CM000685.2:g.154360199G>A	GRCh38
NC_000023.10:g.153588567G>A , CM000685.1:g.153588567G>A	GRCh37
NC_000023.9:g.153241761G>A	NCBI36
NG_011506.1:g.19440C>T
NG_011506.2:g.19440C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.3596C>T	ENSP00000353467.4:p.Ser1199Leu
ENST00000369850.10:c.3596C>T MANE Select	ENSP00000358866.3:p.Ser1199Leu
ENST00000369856.8:c.3515C>T	ENSP00000358872.4:p.Ser1172Leu
ENST00000422373.6:c.3160+1156C>T	ENSP00000416926.2:n.3160+1156C>T
ENST00000610817.5:c.3653C>T	ENSP00000480593.2:n.3653C>T
ENST00000673639.2:c.279+5237C>T
ENST00000676696.1:c.3875C>T	ENSP00000503392.1:n.3875C>T
ENST00000344736.8:c.3596C>T	ENSP00000358863.3:p.Ser1199Leu
ENST00000360319.8:c.3596C>T	ENSP00000353467.4:p.Ser1199Leu
ENST00000369850.7:c.3596C>T	ENSP00000358866.3:p.Ser1199Leu
ENST00000369856.7:c.3515C>T	ENSP00000358872.4:p.Ser1172Leu
ENST00000420627.5:c.3552C>T	ENSP00000408921.1:n.3552C>T
ENST00000422373.5:c.3596C>T	ENSP00000416926.1:p.Ser1199Leu
ENST00000610817.4:c.3515C>T	ENSP00000480593.1:p.Ser1172Leu
NM_001110556.1:c.3596C>T	NP_001104026.1:p.Ser1199Leu
NM_001456.3:c.3596C>T	NP_001447.2:p.Ser1199Leu
XM_011531127.1:c.3596C>T	XP_011529429.1:p.Ser1199Leu
XM_011531128.1:c.3596C>T	XP_011529430.1:p.Ser1199Leu
XM_011531129.1:c.3596C>T	XP_011529431.1:p.Ser1199Leu
XM_011531130.1:c.3596C>T	XP_011529432.1:p.Ser1199Leu
XM_011531131.1:c.3395C>T	XP_011529433.1:p.Ser1132Leu
NM_001110556.2:c.3596C>T MANE Select	NP_001104026.1:p.Ser1199Leu
NM_001456.4:c.3596C>T	NP_001447.2:p.Ser1199Leu