Canonical Allele Identifier: CA324986

Gene: FLNA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154350930A>G , CM000685.2:g.154350930A>G	GRCh38
NC_000023.10:g.153579298A>G , CM000685.1:g.153579298A>G	GRCh37
NC_000023.9:g.153232492A>G	NCBI36
NG_011506.1:g.28709T>C
NG_011506.2:g.28709T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001110556.2:c.7135T>C MANE Select	NP_001104026.1:p.Tyr2379His
ENST00000369850.10:c.7135T>C MANE Select	ENSP00000358866.3:p.Tyr2379His
NM_001110556.1:c.7135T>C	NP_001104026.1:p.Tyr2379His
NM_001456.3:c.7111T>C	NP_001447.2:p.Tyr2371His
NM_001456.4:c.7111T>C	NP_001447.2:p.Tyr2371His
ENST00000344736.8:c.7015T>C	ENSP00000358863.3:p.Tyr2339His
ENST00000360319.8:c.7111T>C	ENSP00000353467.4:p.Tyr2371His
ENST00000360319.9:c.7111T>C	ENSP00000353467.4:p.Tyr2371His
ENST00000369850.7:c.7135T>C	ENSP00000358866.3:p.Tyr2379His
ENST00000369856.7:c.7054T>C	ENSP00000358872.4:p.Tyr2352His
ENST00000369856.8:c.7054T>C	ENSP00000358872.4:p.Tyr2352His
ENST00000420627.5:c.7091T>C	ENSP00000408921.1:n.7091T>C
ENST00000422373.5:c.7111T>C	ENSP00000416926.1:p.Tyr2371His
ENST00000422373.6:c.3916T>C	ENSP00000416926.2:p.Tyr1306His
ENST00000490936.5:n.3663T>C
ENST00000498411.1:n.67+1887T>C
ENST00000498491.5:n.176T>C
ENST00000610817.4:c.6139T>C	ENSP00000480593.1:p.Tyr2047His
ENST00000610817.5:c.7192T>C	ENSP00000480593.2:n.7192T>C
ENST00000673639.2:c.280-2240T>C
ENST00000676696.1:c.7414T>C	ENSP00000503392.1:n.7414T>C
ENST00000678304.1:n.2853T>C
XM_011531127.1:c.7039T>C	XP_011529429.1:p.Tyr2347His
XM_011531128.1:c.7015T>C	XP_011529430.1:p.Tyr2339His
XM_011531129.1:c.6961T>C	XP_011529431.1:p.Tyr2321His
XM_011531130.1:c.6937T>C	XP_011529432.1:p.Tyr2313His
XM_011531131.1:c.6934T>C	XP_011529433.1:p.Tyr2312His