Canonical Allele Identifier: CA415216382
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154359027C>A , CM000685.2:g.154359027C>A GRCh38
NC_000023.10:g.153587395C>A , CM000685.1:g.153587395C>A GRCh37
NC_000023.9:g.153240589C>A NCBI36
NG_011506.1:g.20612G>T
NG_011506.2:g.20612G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000360319.9:c.4431G>T ENSP00000353467.4:p.Lys1477Asn
ENST00000369850.10:c.4431G>T MANE Select ENSP00000358866.3:p.Lys1477Asn
ENST00000369856.8:c.4350G>T ENSP00000358872.4:p.Lys1450Asn
ENST00000422373.6:c.3160+2328G>T ENSP00000416926.2:n.3160+2328G>T
ENST00000610817.5:c.4488G>T ENSP00000480593.2:n.4488G>T
ENST00000673639.2:c.279+6409G>T
ENST00000676696.1:c.4710G>T ENSP00000503392.1:n.4710G>T
ENST00000678304.1:n.148+62G>T
ENST00000344736.8:c.4431G>T ENSP00000358863.3:p.Lys1477Asn
ENST00000360319.8:c.4431G>T ENSP00000353467.4:p.Lys1477Asn
ENST00000369850.7:c.4431G>T ENSP00000358866.3:p.Lys1477Asn
ENST00000369856.7:c.4350G>T ENSP00000358872.4:p.Lys1450Asn
ENST00000420627.5:c.4387G>T ENSP00000408921.1:n.4387G>T
ENST00000422373.5:c.4431G>T ENSP00000416926.1:p.Lys1477Asn
ENST00000490936.5:n.444G>T
ENST00000610817.4:c.4350G>T ENSP00000480593.1:p.Lys1450Asn
NM_001110556.1:c.4431G>T NP_001104026.1:p.Lys1477Asn
NM_001456.3:c.4431G>T NP_001447.2:p.Lys1477Asn
XM_011531127.1:c.4431G>T XP_011529429.1:p.Lys1477Asn
XM_011531128.1:c.4431G>T XP_011529430.1:p.Lys1477Asn
XM_011531129.1:c.4431G>T XP_011529431.1:p.Lys1477Asn
XM_011531130.1:c.4431G>T XP_011529432.1:p.Lys1477Asn
XM_011531131.1:c.4230G>T XP_011529433.1:p.Lys1410Asn
NM_001110556.2:c.4431G>T MANE Select NP_001104026.1:p.Lys1477Asn
NM_001456.4:c.4431G>T NP_001447.2:p.Lys1477Asn