Canonical Allele Identifier: CA519706697

Gene: FLNA

Linked Data

• ClinVar Variation Id: 2945290
• ClinVar RCV Id: RCV003800944
• dbSNP Id: rs2067634939
• MyVariant Identifiers: chrX:g.153581529A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154353161A>G , CM000685.2:g.154353161A>G	GRCh38
NC_000023.10:g.153581529A>G , CM000685.1:g.153581529A>G	GRCh37
NC_000023.9:g.153234723A>G	NCBI36
NG_011506.1:g.26478T>C
NG_011506.2:g.26478T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6042T>C	ENSP00000353467.4:p.His2014=
ENST00000369850.10:c.6066T>C MANE Select	ENSP00000358866.3:p.His2022=
ENST00000369856.8:c.5985T>C	ENSP00000358872.4:p.His1995=
ENST00000422373.6:c.3161-486T>C	ENSP00000416926.2:n.3161-486T>C
ENST00000610817.5:c.6123T>C	ENSP00000480593.2:n.6123T>C
ENST00000673639.2:c.280-4471T>C
ENST00000676696.1:c.6345T>C	ENSP00000503392.1:n.6345T>C
ENST00000678304.1:n.1245T>C
ENST00000344736.8:c.5946T>C	ENSP00000358863.3:p.His1982=
ENST00000360319.8:c.6042T>C	ENSP00000353467.4:p.His2014=
ENST00000369850.7:c.6066T>C	ENSP00000358866.3:p.His2022=
ENST00000369856.7:c.5985T>C	ENSP00000358872.4:p.His1995=
ENST00000415241.1:c.268T>C
ENST00000420627.5:c.6022T>C	ENSP00000408921.1:n.6022T>C
ENST00000422373.5:c.6042T>C	ENSP00000416926.1:p.His2014=
ENST00000444578.1:c.9T>C	ENSP00000397824.1:p.His3=
ENST00000466325.1:n.205T>C
ENST00000490936.5:n.2055T>C
ENST00000610817.4:c.5844+232T>C	ENSP00000480593.1:n.5844+232T>C
NM_001110556.1:c.6066T>C	NP_001104026.1:p.His2022=
NM_001456.3:c.6042T>C	NP_001447.2:p.His2014=
XM_011531127.1:c.5970T>C	XP_011529429.1:p.His1990=
XM_011531128.1:c.5946T>C	XP_011529430.1:p.His1982=
XM_011531129.1:c.5892T>C	XP_011529431.1:p.His1964=
XM_011531130.1:c.5868T>C	XP_011529432.1:p.His1956=
XM_011531131.1:c.5865T>C	XP_011529433.1:p.His1955=
NM_001110556.2:c.6066T>C MANE Select	NP_001104026.1:p.His2022=
NM_001456.4:c.6042T>C	NP_001447.2:p.His2014=