Canonical Allele Identifier: CA415197071

Gene: FLNA

Linked Data

• ClinVar Variation Id: 2094144
• ClinVar RCV Id: RCV003021194
• MyVariant Identifiers: chrX:g.153581682G>T (hg19) ; chrX:g.154353314G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154353314G>T , CM000685.2:g.154353314G>T	GRCh38
NC_000023.10:g.153581682G>T , CM000685.1:g.153581682G>T	GRCh37
NC_000023.9:g.153234876G>T	NCBI36
NG_011506.1:g.26325C>A
NG_011506.2:g.26325C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.5980C>A	ENSP00000353467.4:p.Leu1994Met
ENST00000369850.10:c.6004C>A MANE Select	ENSP00000358866.3:p.Leu2002Met
ENST00000369856.8:c.5923C>A	ENSP00000358872.4:p.Leu1975Met
ENST00000422373.6:c.3161-639C>A	ENSP00000416926.2:n.3161-639C>A
ENST00000610817.5:c.6061C>A	ENSP00000480593.2:n.6061C>A
ENST00000673639.2:c.280-4624C>A
ENST00000676696.1:c.6283C>A	ENSP00000503392.1:n.6283C>A
ENST00000678304.1:n.1183C>A
ENST00000344736.8:c.5884C>A	ENSP00000358863.3:p.Leu1962Met
ENST00000360319.8:c.5980C>A	ENSP00000353467.4:p.Leu1994Met
ENST00000369850.7:c.6004C>A	ENSP00000358866.3:p.Leu2002Met
ENST00000369856.7:c.5923C>A	ENSP00000358872.4:p.Leu1975Met
ENST00000415241.1:c.189C>A
ENST00000420627.5:c.5960C>A	ENSP00000408921.1:n.5960C>A
ENST00000422373.5:c.5980C>A	ENSP00000416926.1:p.Leu1994Met
ENST00000438732.2:c.678C>A
ENST00000466325.1:n.143C>A
ENST00000490936.5:n.1993C>A
ENST00000610817.4:c.5844+79C>A	ENSP00000480593.1:n.5844+79C>A
NM_001110556.1:c.6004C>A	NP_001104026.1:p.Leu2002Met
NM_001456.3:c.5980C>A	NP_001447.2:p.Leu1994Met
XM_011531127.1:c.5908C>A	XP_011529429.1:p.Leu1970Met
XM_011531128.1:c.5884C>A	XP_011529430.1:p.Leu1962Met
XM_011531129.1:c.5830C>A	XP_011529431.1:p.Leu1944Met
XM_011531130.1:c.5806C>A	XP_011529432.1:p.Leu1936Met
XM_011531131.1:c.5803C>A	XP_011529433.1:p.Leu1935Met
NM_001110556.2:c.6004C>A MANE Select	NP_001104026.1:p.Leu2002Met
NM_001456.4:c.5980C>A	NP_001447.2:p.Leu1994Met