Canonical Allele Identifier: CA415197113

Gene: FLNA

Linked Data

• MyVariant Identifiers: chrX:g.153581686C>G (hg19) ; chrX:g.154353318C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154353318C>G , CM000685.2:g.154353318C>G	GRCh38
NC_000023.10:g.153581686C>G , CM000685.1:g.153581686C>G	GRCh37
NC_000023.9:g.153234880C>G	NCBI36
NG_011506.1:g.26321G>C
NG_011506.2:g.26321G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.5976G>C	ENSP00000353467.4:p.Lys1992Asn
ENST00000369850.10:c.6000G>C MANE Select	ENSP00000358866.3:p.Lys2000Asn
ENST00000369856.8:c.5919G>C	ENSP00000358872.4:p.Lys1973Asn
ENST00000422373.6:c.3161-643G>C	ENSP00000416926.2:n.3161-643G>C
ENST00000610817.5:c.6057G>C	ENSP00000480593.2:n.6057G>C
ENST00000673639.2:c.280-4628G>C
ENST00000676696.1:c.6279G>C	ENSP00000503392.1:n.6279G>C
ENST00000678304.1:n.1179G>C
ENST00000344736.8:c.5880G>C	ENSP00000358863.3:p.Lys1960Asn
ENST00000360319.8:c.5976G>C	ENSP00000353467.4:p.Lys1992Asn
ENST00000369850.7:c.6000G>C	ENSP00000358866.3:p.Lys2000Asn
ENST00000369856.7:c.5919G>C	ENSP00000358872.4:p.Lys1973Asn
ENST00000415241.1:c.185G>C
ENST00000420627.5:c.5956G>C	ENSP00000408921.1:n.5956G>C
ENST00000422373.5:c.5976G>C	ENSP00000416926.1:p.Lys1992Asn
ENST00000438732.2:c.674G>C
ENST00000466325.1:n.139G>C
ENST00000490936.5:n.1989G>C
ENST00000610817.4:c.5844+75G>C	ENSP00000480593.1:n.5844+75G>C
NM_001110556.1:c.6000G>C	NP_001104026.1:p.Lys2000Asn
NM_001456.3:c.5976G>C	NP_001447.2:p.Lys1992Asn
XM_011531127.1:c.5904G>C	XP_011529429.1:p.Lys1968Asn
XM_011531128.1:c.5880G>C	XP_011529430.1:p.Lys1960Asn
XM_011531129.1:c.5826G>C	XP_011529431.1:p.Lys1942Asn
XM_011531130.1:c.5802G>C	XP_011529432.1:p.Lys1934Asn
XM_011531131.1:c.5799G>C	XP_011529433.1:p.Lys1933Asn
NM_001110556.2:c.6000G>C MANE Select	NP_001104026.1:p.Lys2000Asn
NM_001456.4:c.5976G>C	NP_001447.2:p.Lys1992Asn