Canonical Allele Identifier: CA415235793

Gene: FLNA

Linked Data

• ClinVar Variation Id: 968470
• ClinVar RCV Id: RCV001243606
• dbSNP Id: rs2067719388
• MyVariant Identifiers: chrX:g.153590808A>G (hg19) ; chrX:g.154362440A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154362440A>G , CM000685.2:g.154362440A>G	GRCh38
NC_000023.10:g.153590808A>G , CM000685.1:g.153590808A>G	GRCh37
NC_000023.9:g.153244002A>G	NCBI36
NG_011506.1:g.17199T>C
NG_011506.2:g.17199T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.2543T>C	ENSP00000353467.4:p.Ile848Thr
ENST00000369850.10:c.2543T>C MANE Select	ENSP00000358866.3:p.Ile848Thr
ENST00000369856.8:c.2462T>C	ENSP00000358872.4:p.Ile821Thr
ENST00000422373.6:c.2543T>C	ENSP00000416926.2:p.Ile848Thr
ENST00000610817.5:c.2600T>C	ENSP00000480593.2:n.2600T>C
ENST00000673639.2:c.279+2996T>C
ENST00000676696.1:c.2822T>C	ENSP00000503392.1:n.2822T>C
ENST00000344736.8:c.2543T>C	ENSP00000358863.3:p.Ile848Thr
ENST00000360319.8:c.2543T>C	ENSP00000353467.4:p.Ile848Thr
ENST00000369850.7:c.2543T>C	ENSP00000358866.3:p.Ile848Thr
ENST00000369856.7:c.2462T>C	ENSP00000358872.4:p.Ile821Thr
ENST00000420627.5:c.2499T>C	ENSP00000408921.1:n.2499T>C
ENST00000422373.5:c.2543T>C	ENSP00000416926.1:p.Ile848Thr
ENST00000610817.4:c.2462T>C	ENSP00000480593.1:p.Ile821Thr
NM_001110556.1:c.2543T>C	NP_001104026.1:p.Ile848Thr
NM_001456.3:c.2543T>C	NP_001447.2:p.Ile848Thr
XM_011531127.1:c.2543T>C	XP_011529429.1:p.Ile848Thr
XM_011531128.1:c.2543T>C	XP_011529430.1:p.Ile848Thr
XM_011531129.1:c.2543T>C	XP_011529431.1:p.Ile848Thr
XM_011531130.1:c.2543T>C	XP_011529432.1:p.Ile848Thr
XM_011531131.1:c.2342T>C	XP_011529433.1:p.Ile781Thr
NM_001110556.2:c.2543T>C MANE Select	NP_001104026.1:p.Ile848Thr
NM_001456.4:c.2543T>C	NP_001447.2:p.Ile848Thr