Canonical Allele Identifier: CA415216174

Gene: FLNA

Linked Data

• ClinVar Variation Id: 642859
• ClinVar RCV Id: RCV002332601 ; RCV002234282
• dbSNP Id: rs782276039
• MyVariant Identifiers: chrX:g.153587361C>G (hg19) ; chrX:g.154358993C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154358993C>G , CM000685.2:g.154358993C>G	GRCh38
NC_000023.10:g.153587361C>G , CM000685.1:g.153587361C>G	GRCh37
NC_000023.9:g.153240555C>G	NCBI36
NG_011506.1:g.20646G>C
NG_011506.2:g.20646G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.4465G>C	ENSP00000353467.4:p.Gly1489Arg
ENST00000369850.10:c.4465G>C MANE Select	ENSP00000358866.3:p.Gly1489Arg
ENST00000369856.8:c.4384G>C	ENSP00000358872.4:p.Gly1462Arg
ENST00000422373.6:c.3160+2362G>C	ENSP00000416926.2:n.3160+2362G>C
ENST00000610817.5:c.4522G>C	ENSP00000480593.2:n.4522G>C
ENST00000673639.2:c.279+6443G>C
ENST00000676696.1:c.4744G>C	ENSP00000503392.1:n.4744G>C
ENST00000678304.1:n.148+96G>C
ENST00000344736.8:c.4465G>C	ENSP00000358863.3:p.Gly1489Arg
ENST00000360319.8:c.4465G>C	ENSP00000353467.4:p.Gly1489Arg
ENST00000369850.7:c.4465G>C	ENSP00000358866.3:p.Gly1489Arg
ENST00000369856.7:c.4384G>C	ENSP00000358872.4:p.Gly1462Arg
ENST00000420627.5:c.4421G>C	ENSP00000408921.1:n.4421G>C
ENST00000422373.5:c.4465G>C	ENSP00000416926.1:p.Gly1489Arg
ENST00000490936.5:n.478G>C
ENST00000610817.4:c.4384G>C	ENSP00000480593.1:p.Gly1462Arg
NM_001110556.1:c.4465G>C	NP_001104026.1:p.Gly1489Arg
NM_001456.3:c.4465G>C	NP_001447.2:p.Gly1489Arg
XM_011531127.1:c.4465G>C	XP_011529429.1:p.Gly1489Arg
XM_011531128.1:c.4465G>C	XP_011529430.1:p.Gly1489Arg
XM_011531129.1:c.4465G>C	XP_011529431.1:p.Gly1489Arg
XM_011531130.1:c.4465G>C	XP_011529432.1:p.Gly1489Arg
XM_011531131.1:c.4264G>C	XP_011529433.1:p.Gly1422Arg
NM_001110556.2:c.4465G>C MANE Select	NP_001104026.1:p.Gly1489Arg
NM_001456.4:c.4465G>C	NP_001447.2:p.Gly1489Arg