Canonical Allele Identifier: CA415231127
Community Standard Title: NM_001110556.2(FLNA):c.2965C>T (p.Gln989Ter)
Gene: FLNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154361550G>A , CM000685.2:g.154361550G>A GRCh38
NC_000023.10:g.153589918G>A , CM000685.1:g.153589918G>A GRCh37
NC_000023.9:g.153243112G>A NCBI36
NG_011506.1:g.18089C>T
NG_011506.2:g.18089C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001110556.2:c.2965C>T MANE Select NP_001104026.1:p.Gln989Ter
ENST00000369850.10:c.2965C>T MANE Select ENSP00000358866.3:p.Gln989Ter
NM_001110556.1:c.2965C>T NP_001104026.1:p.Gln989Ter
NM_001456.3:c.2965C>T NP_001447.2:p.Gln989Ter
NM_001456.4:c.2965C>T NP_001447.2:p.Gln989Ter
ENST00000344736.8:c.2965C>T ENSP00000358863.3:p.Gln989Ter
ENST00000360319.8:c.2965C>T ENSP00000353467.4:p.Gln989Ter
ENST00000360319.9:c.2965C>T ENSP00000353467.4:p.Gln989Ter
ENST00000369850.7:c.2965C>T ENSP00000358866.3:p.Gln989Ter
ENST00000369856.7:c.2884C>T ENSP00000358872.4:p.Gln962Ter
ENST00000369856.8:c.2884C>T ENSP00000358872.4:p.Gln962Ter
ENST00000420627.5:c.2921C>T ENSP00000408921.1:n.2921C>T
ENST00000422373.5:c.2965C>T ENSP00000416926.1:p.Gln989Ter
ENST00000422373.6:c.2965C>T ENSP00000416926.2:p.Gln989Ter
ENST00000610817.4:c.2884C>T ENSP00000480593.1:p.Gln962Ter
ENST00000610817.5:c.3022C>T ENSP00000480593.2:n.3022C>T
ENST00000673639.2:c.279+3886C>T
ENST00000676696.1:c.3244C>T ENSP00000503392.1:n.3244C>T
XM_011531127.1:c.2965C>T XP_011529429.1:p.Gln989Ter
XM_011531128.1:c.2965C>T XP_011529430.1:p.Gln989Ter
XM_011531129.1:c.2965C>T XP_011529431.1:p.Gln989Ter
XM_011531130.1:c.2965C>T XP_011529432.1:p.Gln989Ter
XM_011531131.1:c.2764C>T XP_011529433.1:p.Gln922Ter