Canonical Allele Identifier: CA415194684

Gene: FLNA

Linked Data

• dbSNP Id: rs1557176072
• gnomAD v2: X-153581287-C-T
• gnomAD v4: X-154352919-C-T
• MyVariant Identifiers: chrX:g.153581287C>T (hg19) ; chrX:g.154352919C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154352919C>T , CM000685.2:g.154352919C>T	GRCh38
NC_000023.10:g.153581287C>T , CM000685.1:g.153581287C>T	GRCh37
NC_000023.9:g.153234481C>T	NCBI36
NG_011506.1:g.26720G>A
NG_011506.2:g.26720G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000360319.9:c.6208G>A	ENSP00000353467.4:p.Gly2070Ser
ENST00000369850.10:c.6232G>A MANE Select	ENSP00000358866.3:p.Gly2078Ser
ENST00000369856.8:c.6151G>A	ENSP00000358872.4:p.Gly2051Ser
ENST00000422373.6:c.3161-244G>A	ENSP00000416926.2:n.3161-244G>A
ENST00000610817.5:c.6289G>A	ENSP00000480593.2:n.6289G>A
ENST00000673639.2:c.280-4229G>A
ENST00000676696.1:c.6511G>A	ENSP00000503392.1:n.6511G>A
ENST00000678304.1:n.1411G>A
ENST00000344736.8:c.6112G>A	ENSP00000358863.3:p.Gly2038Ser
ENST00000360319.8:c.6208G>A	ENSP00000353467.4:p.Gly2070Ser
ENST00000369850.7:c.6232G>A	ENSP00000358866.3:p.Gly2078Ser
ENST00000369856.7:c.6151G>A	ENSP00000358872.4:p.Gly2051Ser
ENST00000415241.1:c.434G>A
ENST00000420627.5:c.6188G>A	ENSP00000408921.1:n.6188G>A
ENST00000422373.5:c.6208G>A	ENSP00000416926.1:p.Gly2070Ser
ENST00000444578.1:c.175G>A	ENSP00000397824.1:p.Gly59Ser
ENST00000466325.1:n.447G>A
ENST00000490936.5:n.2221G>A
ENST00000610817.4:c.5844+474G>A	ENSP00000480593.1:n.5844+474G>A
NM_001110556.1:c.6232G>A	NP_001104026.1:p.Gly2078Ser
NM_001456.3:c.6208G>A	NP_001447.2:p.Gly2070Ser
XM_011531127.1:c.6136G>A	XP_011529429.1:p.Gly2046Ser
XM_011531128.1:c.6112G>A	XP_011529430.1:p.Gly2038Ser
XM_011531129.1:c.6058G>A	XP_011529431.1:p.Gly2020Ser
XM_011531130.1:c.6034G>A	XP_011529432.1:p.Gly2012Ser
XM_011531131.1:c.6031G>A	XP_011529433.1:p.Gly2011Ser
NM_001110556.2:c.6232G>A MANE Select	NP_001104026.1:p.Gly2078Ser
NM_001456.4:c.6208G>A	NP_001447.2:p.Gly2070Ser