Canonical Allele Identifier: CA10604670

Gene: FLNA

Linked Data

• ClinVar Variation Id: 284039
• ClinVar RCV Id: RCV000359558
• dbSNP Id: rs886044820
• MyVariant Identifiers: chrX:g.153596042C>A (hg19) ; chrX:g.154367674C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154367674C>A , CM000685.2:g.154367674C>A	GRCh38
NC_000023.10:g.153596042C>A , CM000685.1:g.153596042C>A	GRCh37
NC_000023.9:g.153249236C>A	NCBI36
NG_011506.1:g.11965G>T
NG_011506.2:g.11965G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.687G>T	ENSP00000353467.4:p.Met229Ile
ENST00000369850.10:c.687G>T MANE Select	ENSP00000358866.3:p.Met229Ile
ENST00000369856.8:c.606G>T	ENSP00000358872.4:p.Met202Ile
ENST00000422373.6:c.687G>T	ENSP00000416926.2:p.Met229Ile
ENST00000610817.5:c.687G>T	ENSP00000480593.2:p.Met229Ile
ENST00000676696.1:c.687G>T	ENSP00000503392.1:p.Met229Ile
ENST00000344736.8:c.687G>T	ENSP00000358863.3:p.Met229Ile
ENST00000360319.8:c.687G>T	ENSP00000353467.4:p.Met229Ile
ENST00000369850.7:c.687G>T	ENSP00000358866.3:p.Met229Ile
ENST00000369856.7:c.606G>T	ENSP00000358872.4:p.Met202Ile
ENST00000420627.5:c.645G>T	ENSP00000408921.1:p.Met215Ile
ENST00000422373.5:c.687G>T	ENSP00000416926.1:p.Met229Ile
ENST00000610817.4:c.606G>T	ENSP00000480593.1:p.Met202Ile
NM_001110556.1:c.687G>T	NP_001104026.1:p.Met229Ile
NM_001456.3:c.687G>T	NP_001447.2:p.Met229Ile
XM_011531127.1:c.687G>T	XP_011529429.1:p.Met229Ile
XM_011531128.1:c.687G>T	XP_011529430.1:p.Met229Ile
XM_011531129.1:c.687G>T	XP_011529431.1:p.Met229Ile
XM_011531130.1:c.687G>T	XP_011529432.1:p.Met229Ile
XM_011531131.1:c.687G>T	XP_011529433.1:p.Met229Ile
NM_001110556.2:c.687G>T MANE Select	NP_001104026.1:p.Met229Ile
NM_001456.4:c.687G>T	NP_001447.2:p.Met229Ile