Canonical Allele Identifier: CA16608794

Gene: FLNA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154349848G>A , CM000685.2:g.154349848G>A	GRCh38
NC_000023.10:g.153578216G>A , CM000685.1:g.153578216G>A	GRCh37
NC_000023.9:g.153231410G>A	NCBI36
NG_011506.1:g.29791C>T
NG_011506.2:g.29791C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.7329C>T	ENSP00000353467.4:p.Val2443=
ENST00000369850.10:c.7353C>T MANE Select	ENSP00000358866.3:p.Val2451=
ENST00000369856.8:c.7272C>T	ENSP00000358872.4:p.Val2424=
ENST00000422373.6:c.4134C>T	ENSP00000416926.2:p.Val1378=
ENST00000610817.5:c.7410C>T	ENSP00000480593.2:n.7410C>T
ENST00000673639.2:c.280-1158C>T
ENST00000676696.1:c.7632C>T	ENSP00000503392.1:n.7632C>T
ENST00000678304.1:n.3071C>T
ENST00000344736.8:c.7233C>T	ENSP00000358863.3:p.Val2411=
ENST00000360319.8:c.7329C>T	ENSP00000353467.4:p.Val2443=
ENST00000369850.7:c.7353C>T	ENSP00000358866.3:p.Val2451=
ENST00000369856.7:c.7272C>T	ENSP00000358872.4:p.Val2424=
ENST00000420627.5:c.7309C>T	ENSP00000408921.1:n.7309C>T
ENST00000422373.5:c.7329C>T	ENSP00000416926.1:p.Val2443=
ENST00000462590.1:n.508C>T
ENST00000490936.5:n.4582C>T
ENST00000498411.1:n.68-1018C>T
ENST00000498491.5:n.394C>T
ENST00000610817.4:c.6357C>T	ENSP00000480593.1:p.Val2119=
NM_001110556.1:c.7353C>T	NP_001104026.1:p.Val2451=
NM_001456.3:c.7329C>T	NP_001447.2:p.Val2443=
XM_011531127.1:c.7257C>T	XP_011529429.1:p.Val2419=
XM_011531128.1:c.7233C>T	XP_011529430.1:p.Val2411=
XM_011531129.1:c.7179C>T	XP_011529431.1:p.Val2393=
XM_011531130.1:c.7155C>T	XP_011529432.1:p.Val2385=
XM_011531131.1:c.7152C>T	XP_011529433.1:p.Val2384=
NM_001110556.2:c.7353C>T MANE Select	NP_001104026.1:p.Val2451=
NM_001456.4:c.7329C>T	NP_001447.2:p.Val2443=