Canonical Allele Identifier: CA415251096

Gene: FLNA

Linked Data

• ClinVar Variation Id: 2138787
• ClinVar RCV Id: RCV003050680
• MyVariant Identifiers: chrX:g.153596445G>C (hg19) ; chrX:g.154368077G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154368077G>C , CM000685.2:g.154368077G>C	GRCh38
NC_000023.10:g.153596445G>C , CM000685.1:g.153596445G>C	GRCh37
NC_000023.9:g.153249639G>C	NCBI36
NG_011506.1:g.11562C>G
NG_011506.2:g.11562C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.387C>G	ENSP00000353467.4:p.Ile129Met
ENST00000369850.10:c.387C>G MANE Select	ENSP00000358866.3:p.Ile129Met
ENST00000369856.8:c.306C>G	ENSP00000358872.4:p.Ile102Met
ENST00000422373.6:c.387C>G	ENSP00000416926.2:p.Ile129Met
ENST00000610817.5:c.387C>G	ENSP00000480593.2:p.Ile129Met
ENST00000676696.1:c.387C>G	ENSP00000503392.1:p.Ile129Met
ENST00000344736.8:c.387C>G	ENSP00000358863.3:p.Ile129Met
ENST00000360319.8:c.387C>G	ENSP00000353467.4:p.Ile129Met
ENST00000369850.7:c.387C>G	ENSP00000358866.3:p.Ile129Met
ENST00000369856.7:c.306C>G	ENSP00000358872.4:p.Ile102Met
ENST00000420627.5:c.345C>G	ENSP00000408921.1:p.Ile115Met
ENST00000422373.5:c.387C>G	ENSP00000416926.1:p.Ile129Met
ENST00000610817.4:c.306C>G	ENSP00000480593.1:p.Ile102Met
NM_001110556.1:c.387C>G	NP_001104026.1:p.Ile129Met
NM_001456.3:c.387C>G	NP_001447.2:p.Ile129Met
XM_011531127.1:c.387C>G	XP_011529429.1:p.Ile129Met
XM_011531128.1:c.387C>G	XP_011529430.1:p.Ile129Met
XM_011531129.1:c.387C>G	XP_011529431.1:p.Ile129Met
XM_011531130.1:c.387C>G	XP_011529432.1:p.Ile129Met
XM_011531131.1:c.387C>G	XP_011529433.1:p.Ile129Met
NM_001110556.2:c.387C>G MANE Select	NP_001104026.1:p.Ile129Met
NM_001456.4:c.387C>G	NP_001447.2:p.Ile129Met