Canonical Allele Identifier: CA10560597

Gene: FLNA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154359514T>G , CM000685.2:g.154359514T>G	GRCh38
NC_000023.10:g.153587882T>G , CM000685.1:g.153587882T>G	GRCh37
NC_000023.9:g.153241076T>G	NCBI36
NG_011506.1:g.20125A>C
NG_011506.2:g.20125A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001110556.2:c.4112A>C MANE Select	NP_001104026.1:p.Asn1371Thr
ENST00000369850.10:c.4112A>C MANE Select	ENSP00000358866.3:p.Asn1371Thr
NM_001110556.1:c.4112A>C	NP_001104026.1:p.Asn1371Thr
NM_001456.3:c.4112A>C	NP_001447.2:p.Asn1371Thr
NM_001456.4:c.4112A>C	NP_001447.2:p.Asn1371Thr
ENST00000344736.8:c.4112A>C	ENSP00000358863.3:p.Asn1371Thr
ENST00000360319.8:c.4112A>C	ENSP00000353467.4:p.Asn1371Thr
ENST00000360319.9:c.4112A>C	ENSP00000353467.4:p.Asn1371Thr
ENST00000369850.7:c.4112A>C	ENSP00000358866.3:p.Asn1371Thr
ENST00000369856.7:c.4031A>C	ENSP00000358872.4:p.Asn1344Thr
ENST00000369856.8:c.4031A>C	ENSP00000358872.4:p.Asn1344Thr
ENST00000420627.5:c.4068A>C	ENSP00000408921.1:n.4068A>C
ENST00000422373.5:c.4112A>C	ENSP00000416926.1:p.Asn1371Thr
ENST00000422373.6:c.3160+1841A>C	ENSP00000416926.2:n.3160+1841A>C
ENST00000490936.5:n.125A>C
ENST00000610817.4:c.4031A>C	ENSP00000480593.1:p.Asn1344Thr
ENST00000610817.5:c.4169A>C	ENSP00000480593.2:n.4169A>C
ENST00000673639.2:c.279+5922A>C
ENST00000676696.1:c.4391A>C	ENSP00000503392.1:n.4391A>C
XM_011531127.1:c.4112A>C	XP_011529429.1:p.Asn1371Thr
XM_011531128.1:c.4112A>C	XP_011529430.1:p.Asn1371Thr
XM_011531129.1:c.4112A>C	XP_011529431.1:p.Asn1371Thr
XM_011531130.1:c.4112A>C	XP_011529432.1:p.Asn1371Thr
XM_011531131.1:c.3911A>C	XP_011529433.1:p.Asn1304Thr