Canonical Allele Identifier: CA415222631

Gene: FLNA

Linked Data

• ClinVar Variation Id: 432416
• ClinVar RCV Id: RCV000497491 ; RCV003766799
• dbSNP Id: rs1557177663
• MyVariant Identifiers: chrX:g.153588388G>A (hg19) ; chrX:g.154360020G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154360020G>A , CM000685.2:g.154360020G>A	GRCh38
NC_000023.10:g.153588388G>A , CM000685.1:g.153588388G>A	GRCh37
NC_000023.9:g.153241582G>A	NCBI36
NG_011506.1:g.19619C>T
NG_011506.2:g.19619C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.3775C>T	ENSP00000353467.4:p.Gln1259Ter
ENST00000369850.10:c.3775C>T MANE Select	ENSP00000358866.3:p.Gln1259Ter
ENST00000369856.8:c.3694C>T	ENSP00000358872.4:p.Gln1232Ter
ENST00000422373.6:c.3160+1335C>T	ENSP00000416926.2:n.3160+1335C>T
ENST00000610817.5:c.3832C>T	ENSP00000480593.2:n.3832C>T
ENST00000673639.2:c.279+5416C>T
ENST00000676696.1:c.4054C>T	ENSP00000503392.1:n.4054C>T
ENST00000344736.8:c.3775C>T	ENSP00000358863.3:p.Gln1259Ter
ENST00000360319.8:c.3775C>T	ENSP00000353467.4:p.Gln1259Ter
ENST00000369850.7:c.3775C>T	ENSP00000358866.3:p.Gln1259Ter
ENST00000369856.7:c.3694C>T	ENSP00000358872.4:p.Gln1232Ter
ENST00000420627.5:c.3731C>T	ENSP00000408921.1:n.3731C>T
ENST00000422373.5:c.3775C>T	ENSP00000416926.1:p.Gln1259Ter
ENST00000610817.4:c.3694C>T	ENSP00000480593.1:p.Gln1232Ter
NM_001110556.1:c.3775C>T	NP_001104026.1:p.Gln1259Ter
NM_001456.3:c.3775C>T	NP_001447.2:p.Gln1259Ter
XM_011531127.1:c.3775C>T	XP_011529429.1:p.Gln1259Ter
XM_011531128.1:c.3775C>T	XP_011529430.1:p.Gln1259Ter
XM_011531129.1:c.3775C>T	XP_011529431.1:p.Gln1259Ter
XM_011531130.1:c.3775C>T	XP_011529432.1:p.Gln1259Ter
XM_011531131.1:c.3574C>T	XP_011529433.1:p.Gln1192Ter
NM_001110556.2:c.3775C>T MANE Select	NP_001104026.1:p.Gln1259Ter
NM_001456.4:c.3775C>T	NP_001447.2:p.Gln1259Ter