Canonical Allele Identifier: CA415180377

Gene: FLNA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154349482G>A , CM000685.2:g.154349482G>A	GRCh38
NC_000023.10:g.153577850G>A , CM000685.1:g.153577850G>A	GRCh37
NC_000023.9:g.153231044G>A	NCBI36
NG_011506.1:g.30157C>T
NG_011506.2:g.30157C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001110556.2:c.7636C>T MANE Select	NP_001104026.1:p.Gln2546Ter
ENST00000369850.10:c.7636C>T MANE Select	ENSP00000358866.3:p.Gln2546Ter
NM_001110556.1:c.7636C>T	NP_001104026.1:p.Gln2546Ter
NM_001456.3:c.7612C>T	NP_001447.2:p.Gln2538Ter
NM_001456.4:c.7612C>T	NP_001447.2:p.Gln2538Ter
ENST00000344736.8:c.7516C>T	ENSP00000358863.3:p.Gln2506Ter
ENST00000360319.8:c.7612C>T	ENSP00000353467.4:p.Gln2538Ter
ENST00000360319.9:c.7612C>T	ENSP00000353467.4:p.Gln2538Ter
ENST00000369850.7:c.7636C>T	ENSP00000358866.3:p.Gln2546Ter
ENST00000369856.7:c.7555C>T	ENSP00000358872.4:p.Gln2519Ter
ENST00000369856.8:c.7555C>T	ENSP00000358872.4:p.Gln2519Ter
ENST00000420627.5:c.7592C>T	ENSP00000408921.1:n.7592C>T
ENST00000422373.5:c.7612C>T	ENSP00000416926.1:p.Gln2538Ter
ENST00000422373.6:c.4417C>T	ENSP00000416926.2:p.Gln1473Ter
ENST00000462590.1:n.791C>T
ENST00000490936.5:n.4865C>T
ENST00000498411.1:n.68-652C>T
ENST00000498491.5:n.677C>T
ENST00000610817.4:c.6640C>T	ENSP00000480593.1:p.Gln2214Ter
ENST00000610817.5:c.7693C>T	ENSP00000480593.2:n.7693C>T
ENST00000673639.2:c.280-792C>T
ENST00000676696.1:c.7915C>T	ENSP00000503392.1:n.7915C>T
ENST00000678304.1:n.3354C>T
XM_011531127.1:c.7540C>T	XP_011529429.1:p.Gln2514Ter
XM_011531128.1:c.7516C>T	XP_011529430.1:p.Gln2506Ter
XM_011531129.1:c.7462C>T	XP_011529431.1:p.Gln2488Ter
XM_011531130.1:c.7438C>T	XP_011529432.1:p.Gln2480Ter
XM_011531131.1:c.7435C>T	XP_011529433.1:p.Gln2479Ter