Canonical Allele Identifier: CA415196900

Gene: FLNA

Linked Data

• ClinVar Variation Id: 2632470
• ClinVar RCV Id: RCV004531597
• MyVariant Identifiers: chrX:g.153581667C>A (hg19) ; chrX:g.154353299C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154353299C>A , CM000685.2:g.154353299C>A	GRCh38
NC_000023.10:g.153581667C>A , CM000685.1:g.153581667C>A	GRCh37
NC_000023.9:g.153234861C>A	NCBI36
NG_011506.1:g.26340G>T
NG_011506.2:g.26340G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.5995G>T	ENSP00000353467.4:p.Val1999Leu
ENST00000369850.10:c.6019G>T MANE Select	ENSP00000358866.3:p.Val2007Leu
ENST00000369856.8:c.5938G>T	ENSP00000358872.4:p.Val1980Leu
ENST00000422373.6:c.3161-624G>T	ENSP00000416926.2:n.3161-624G>T
ENST00000610817.5:c.6076G>T	ENSP00000480593.2:n.6076G>T
ENST00000673639.2:c.280-4609G>T
ENST00000676696.1:c.6298G>T	ENSP00000503392.1:n.6298G>T
ENST00000678304.1:n.1198G>T
ENST00000344736.8:c.5899G>T	ENSP00000358863.3:p.Val1967Leu
ENST00000360319.8:c.5995G>T	ENSP00000353467.4:p.Val1999Leu
ENST00000369850.7:c.6019G>T	ENSP00000358866.3:p.Val2007Leu
ENST00000369856.7:c.5938G>T	ENSP00000358872.4:p.Val1980Leu
ENST00000415241.1:c.204G>T
ENST00000420627.5:c.5975G>T	ENSP00000408921.1:n.5975G>T
ENST00000422373.5:c.5995G>T	ENSP00000416926.1:p.Val1999Leu
ENST00000438732.2:c.693G>T
ENST00000466325.1:n.158G>T
ENST00000490936.5:n.2008G>T
ENST00000610817.4:c.5844+94G>T	ENSP00000480593.1:n.5844+94G>T
NM_001110556.1:c.6019G>T	NP_001104026.1:p.Val2007Leu
NM_001456.3:c.5995G>T	NP_001447.2:p.Val1999Leu
XM_011531127.1:c.5923G>T	XP_011529429.1:p.Val1975Leu
XM_011531128.1:c.5899G>T	XP_011529430.1:p.Val1967Leu
XM_011531129.1:c.5845G>T	XP_011529431.1:p.Val1949Leu
XM_011531130.1:c.5821G>T	XP_011529432.1:p.Val1941Leu
XM_011531131.1:c.5818G>T	XP_011529433.1:p.Val1940Leu
NM_001110556.2:c.6019G>T MANE Select	NP_001104026.1:p.Val2007Leu
NM_001456.4:c.5995G>T	NP_001447.2:p.Val1999Leu