Canonical Allele Identifier: CA415184652
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154350910T>A , CM000685.2:g.154350910T>A GRCh38
NC_000023.10:g.153579278T>A , CM000685.1:g.153579278T>A GRCh37
NC_000023.9:g.153232472T>A NCBI36
NG_011506.1:g.28729A>T
NG_011506.2:g.28729A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000360319.9:c.7131A>T ENSP00000353467.4:p.Gln2377His
ENST00000369850.10:c.7155A>T MANE Select ENSP00000358866.3:p.Gln2385His
ENST00000369856.8:c.7074A>T ENSP00000358872.4:p.Gln2358His
ENST00000422373.6:c.3936A>T ENSP00000416926.2:p.Gln1312His
ENST00000610817.5:c.7212A>T ENSP00000480593.2:n.7212A>T
ENST00000673639.2:c.280-2220A>T
ENST00000676696.1:c.7434A>T ENSP00000503392.1:n.7434A>T
ENST00000678304.1:n.2873A>T
ENST00000344736.8:c.7035A>T ENSP00000358863.3:p.Gln2345His
ENST00000360319.8:c.7131A>T ENSP00000353467.4:p.Gln2377His
ENST00000369850.7:c.7155A>T ENSP00000358866.3:p.Gln2385His
ENST00000369856.7:c.7074A>T ENSP00000358872.4:p.Gln2358His
ENST00000420627.5:c.7111A>T ENSP00000408921.1:n.7111A>T
ENST00000422373.5:c.7131A>T ENSP00000416926.1:p.Gln2377His
ENST00000490936.5:n.3683A>T
ENST00000498411.1:n.67+1907A>T
ENST00000498491.5:n.196A>T
ENST00000610817.4:c.6159A>T ENSP00000480593.1:p.Gln2053His
NM_001110556.1:c.7155A>T NP_001104026.1:p.Gln2385His
NM_001456.3:c.7131A>T NP_001447.2:p.Gln2377His
XM_011531127.1:c.7059A>T XP_011529429.1:p.Gln2353His
XM_011531128.1:c.7035A>T XP_011529430.1:p.Gln2345His
XM_011531129.1:c.6981A>T XP_011529431.1:p.Gln2327His
XM_011531130.1:c.6957A>T XP_011529432.1:p.Gln2319His
XM_011531131.1:c.6954A>T XP_011529433.1:p.Gln2318His
NM_001110556.2:c.7155A>T MANE Select NP_001104026.1:p.Gln2385His
NM_001456.4:c.7131A>T NP_001447.2:p.Gln2377His