Canonical Allele Identifier: CA415250186

Gene: FLNA

Linked Data

• ClinVar Variation Id: 1024355
• ClinVar RCV Id: RCV001324523 ; RCV001535573
• dbSNP Id: rs2067775793
• COSMIC: COSM375504
• MyVariant Identifiers: chrX:g.153596355C>G (hg19) ; chrX:g.154367987C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154367987C>G , CM000685.2:g.154367987C>G	GRCh38
NC_000023.10:g.153596355C>G , CM000685.1:g.153596355C>G	GRCh37
NC_000023.9:g.153249549C>G	NCBI36
NG_011506.1:g.11652G>C
NG_011506.2:g.11652G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.477G>C	ENSP00000353467.4:p.Glu159Asp
ENST00000369850.10:c.477G>C MANE Select	ENSP00000358866.3:p.Glu159Asp
ENST00000369856.8:c.396G>C	ENSP00000358872.4:p.Glu132Asp
ENST00000422373.6:c.477G>C	ENSP00000416926.2:p.Glu159Asp
ENST00000610817.5:c.477G>C	ENSP00000480593.2:p.Glu159Asp
ENST00000676696.1:c.477G>C	ENSP00000503392.1:p.Glu159Asp
ENST00000344736.8:c.477G>C	ENSP00000358863.3:p.Glu159Asp
ENST00000360319.8:c.477G>C	ENSP00000353467.4:p.Glu159Asp
ENST00000369850.7:c.477G>C	ENSP00000358866.3:p.Glu159Asp
ENST00000369856.7:c.396G>C	ENSP00000358872.4:p.Glu132Asp
ENST00000420627.5:c.435G>C	ENSP00000408921.1:p.Glu145Asp
ENST00000422373.5:c.477G>C	ENSP00000416926.1:p.Glu159Asp
ENST00000610817.4:c.396G>C	ENSP00000480593.1:p.Glu132Asp
NM_001110556.1:c.477G>C	NP_001104026.1:p.Glu159Asp
NM_001456.3:c.477G>C	NP_001447.2:p.Glu159Asp
XM_011531127.1:c.477G>C	XP_011529429.1:p.Glu159Asp
XM_011531128.1:c.477G>C	XP_011529430.1:p.Glu159Asp
XM_011531129.1:c.477G>C	XP_011529431.1:p.Glu159Asp
XM_011531130.1:c.477G>C	XP_011529432.1:p.Glu159Asp
XM_011531131.1:c.477G>C	XP_011529433.1:p.Glu159Asp
NM_001110556.2:c.477G>C MANE Select	NP_001104026.1:p.Glu159Asp
NM_001456.4:c.477G>C	NP_001447.2:p.Glu159Asp