Canonical Allele Identifier: CA415186126

Gene: FLNA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154351893G>A , CM000685.2:g.154351893G>A	GRCh38
NC_000023.10:g.153580261G>A , CM000685.1:g.153580261G>A	GRCh37
NC_000023.9:g.153233455G>A	NCBI36
NG_011506.1:g.27746C>T
NG_011506.2:g.27746C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001110556.2:c.6898C>T MANE Select	NP_001104026.1:p.Gln2300Ter
ENST00000369850.10:c.6898C>T MANE Select	ENSP00000358866.3:p.Gln2300Ter
NM_001110556.1:c.6898C>T	NP_001104026.1:p.Gln2300Ter
NM_001456.3:c.6874C>T	NP_001447.2:p.Gln2292Ter
NM_001456.4:c.6874C>T	NP_001447.2:p.Gln2292Ter
ENST00000344736.8:c.6778C>T	ENSP00000358863.3:p.Gln2260Ter
ENST00000360319.8:c.6874C>T	ENSP00000353467.4:p.Gln2292Ter
ENST00000360319.9:c.6874C>T	ENSP00000353467.4:p.Gln2292Ter
ENST00000369850.7:c.6898C>T	ENSP00000358866.3:p.Gln2300Ter
ENST00000369856.7:c.6817C>T	ENSP00000358872.4:p.Gln2273Ter
ENST00000369856.8:c.6817C>T	ENSP00000358872.4:p.Gln2273Ter
ENST00000420627.5:c.6854C>T	ENSP00000408921.1:n.6854C>T
ENST00000422373.5:c.6874C>T	ENSP00000416926.1:p.Gln2292Ter
ENST00000422373.6:c.3679C>T	ENSP00000416926.2:p.Gln1227Ter
ENST00000444578.1:c.718C>T	ENSP00000397824.1:p.Gln240Ter
ENST00000474358.5:n.531C>T
ENST00000490936.5:n.2887C>T
ENST00000498411.1:n.67+924C>T
ENST00000610817.4:c.5902C>T	ENSP00000480593.1:p.Gln1968Ter
ENST00000610817.5:c.6955C>T	ENSP00000480593.2:n.6955C>T
ENST00000673639.2:c.280-3203C>T
ENST00000676696.1:c.7177C>T	ENSP00000503392.1:n.7177C>T
ENST00000678304.1:n.2077C>T
XM_011531127.1:c.6802C>T	XP_011529429.1:p.Gln2268Ter
XM_011531128.1:c.6778C>T	XP_011529430.1:p.Gln2260Ter
XM_011531129.1:c.6724C>T	XP_011529431.1:p.Gln2242Ter
XM_011531130.1:c.6700C>T	XP_011529432.1:p.Gln2234Ter
XM_011531131.1:c.6697C>T	XP_011529433.1:p.Gln2233Ter