Canonical Allele Identifier: CA10560790
Community Standard Title: NM_001110556.2(FLNA):c.2981A>G (p.Lys994Arg)
Gene: FLNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154361534T>C , CM000685.2:g.154361534T>C GRCh38
NC_000023.10:g.153589902T>C , CM000685.1:g.153589902T>C GRCh37
NC_000023.9:g.153243096T>C NCBI36
NG_011506.1:g.18105A>G
NG_011506.2:g.18105A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001110556.2:c.2981A>G MANE Select NP_001104026.1:p.Lys994Arg
ENST00000369850.10:c.2981A>G MANE Select ENSP00000358866.3:p.Lys994Arg
NM_001110556.1:c.2981A>G NP_001104026.1:p.Lys994Arg
NM_001456.3:c.2981A>G NP_001447.2:p.Lys994Arg
NM_001456.4:c.2981A>G NP_001447.2:p.Lys994Arg
ENST00000344736.8:c.2981A>G ENSP00000358863.3:p.Lys994Arg
ENST00000360319.8:c.2981A>G ENSP00000353467.4:p.Lys994Arg
ENST00000360319.9:c.2981A>G ENSP00000353467.4:p.Lys994Arg
ENST00000369850.7:c.2981A>G ENSP00000358866.3:p.Lys994Arg
ENST00000369856.7:c.2900A>G ENSP00000358872.4:p.Lys967Arg
ENST00000369856.8:c.2900A>G ENSP00000358872.4:p.Lys967Arg
ENST00000420627.5:c.2937A>G ENSP00000408921.1:n.2937A>G
ENST00000422373.5:c.2981A>G ENSP00000416926.1:p.Lys994Arg
ENST00000422373.6:c.2981A>G ENSP00000416926.2:p.Lys994Arg
ENST00000610817.4:c.2900A>G ENSP00000480593.1:p.Lys967Arg
ENST00000610817.5:c.3038A>G ENSP00000480593.2:n.3038A>G
ENST00000673639.2:c.279+3902A>G
ENST00000676696.1:c.3260A>G ENSP00000503392.1:n.3260A>G
XM_011531127.1:c.2981A>G XP_011529429.1:p.Lys994Arg
XM_011531128.1:c.2981A>G XP_011529430.1:p.Lys994Arg
XM_011531129.1:c.2981A>G XP_011529431.1:p.Lys994Arg
XM_011531130.1:c.2981A>G XP_011529432.1:p.Lys994Arg
XM_011531131.1:c.2780A>G XP_011529433.1:p.Lys927Arg