Canonical Allele Identifier: CA415183223

Gene: FLNA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154350030C>G , CM000685.2:g.154350030C>G	GRCh38
NC_000023.10:g.153578398C>G , CM000685.1:g.153578398C>G	GRCh37
NC_000023.9:g.153231592C>G	NCBI36
NG_011506.1:g.29609G>C
NG_011506.2:g.29609G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001110556.2:c.7333+1G>C MANE Select	NP_001104026.1:n.7333+1G>C
ENST00000369850.10:c.7333+1G>C MANE Select	ENSP00000358866.3:n.7333+1G>C
NM_001110556.1:c.7333+1G>C	NP_001104026.1:n.7333+1G>C
NM_001456.3:c.7309+1G>C	NP_001447.2:n.7309+1G>C
NM_001456.4:c.7309+1G>C	NP_001447.2:n.7309+1G>C
ENST00000344736.8:c.7213+1G>C	ENSP00000358863.3:n.7213+1G>C
ENST00000360319.8:c.7309+1G>C	ENSP00000353467.4:n.7309+1G>C
ENST00000360319.9:c.7309+1G>C	ENSP00000353467.4:n.7309+1G>C
ENST00000369850.7:c.7333+1G>C	ENSP00000358866.3:n.7333+1G>C
ENST00000369856.7:c.7252+1G>C	ENSP00000358872.4:n.7252+1G>C
ENST00000369856.8:c.7252+1G>C	ENSP00000358872.4:n.7252+1G>C
ENST00000420627.5:c.7289+1G>C	ENSP00000408921.1:n.7289+1G>C
ENST00000422373.5:c.7309+1G>C	ENSP00000416926.1:n.7309+1G>C
ENST00000422373.6:c.4114+1G>C	ENSP00000416926.2:n.4114+1G>C
ENST00000462590.1:n.326G>C
ENST00000490936.5:n.4562+1G>C
ENST00000498411.1:n.68-1200G>C
ENST00000498491.5:n.374+1G>C
ENST00000610817.4:c.6337+1G>C	ENSP00000480593.1:n.6337+1G>C
ENST00000610817.5:c.7390+1G>C	ENSP00000480593.2:n.7390+1G>C
ENST00000673639.2:c.280-1340G>C
ENST00000676696.1:c.7612+1G>C	ENSP00000503392.1:n.7612+1G>C
ENST00000678304.1:n.3051+1G>C
XM_011531127.1:c.7237+1G>C	XP_011529429.1:n.7237+1G>C
XM_011531128.1:c.7213+1G>C	XP_011529430.1:n.7213+1G>C
XM_011531129.1:c.7159+1G>C	XP_011529431.1:n.7159+1G>C
XM_011531130.1:c.7135+1G>C	XP_011529432.1:n.7135+1G>C
XM_011531131.1:c.7132+1G>C	XP_011529433.1:n.7132+1G>C