Canonical Allele Identifier: CA415196997

Gene: FLNA

Linked Data

• gnomAD v4: X-154353308-T-G
• MyVariant Identifiers: chrX:g.153581676T>G (hg19) ; chrX:g.154353308T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154353308T>G , CM000685.2:g.154353308T>G	GRCh38
NC_000023.10:g.153581676T>G , CM000685.1:g.153581676T>G	GRCh37
NC_000023.9:g.153234870T>G	NCBI36
NG_011506.1:g.26331A>C
NG_011506.2:g.26331A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.5986A>C	ENSP00000353467.4:p.Asn1996His
ENST00000369850.10:c.6010A>C MANE Select	ENSP00000358866.3:p.Asn2004His
ENST00000369856.8:c.5929A>C	ENSP00000358872.4:p.Asn1977His
ENST00000422373.6:c.3161-633A>C	ENSP00000416926.2:n.3161-633A>C
ENST00000610817.5:c.6067A>C	ENSP00000480593.2:n.6067A>C
ENST00000673639.2:c.280-4618A>C
ENST00000676696.1:c.6289A>C	ENSP00000503392.1:n.6289A>C
ENST00000678304.1:n.1189A>C
ENST00000344736.8:c.5890A>C	ENSP00000358863.3:p.Asn1964His
ENST00000360319.8:c.5986A>C	ENSP00000353467.4:p.Asn1996His
ENST00000369850.7:c.6010A>C	ENSP00000358866.3:p.Asn2004His
ENST00000369856.7:c.5929A>C	ENSP00000358872.4:p.Asn1977His
ENST00000415241.1:c.195A>C
ENST00000420627.5:c.5966A>C	ENSP00000408921.1:n.5966A>C
ENST00000422373.5:c.5986A>C	ENSP00000416926.1:p.Asn1996His
ENST00000438732.2:c.684A>C
ENST00000466325.1:n.149A>C
ENST00000490936.5:n.1999A>C
ENST00000610817.4:c.5844+85A>C	ENSP00000480593.1:n.5844+85A>C
NM_001110556.1:c.6010A>C	NP_001104026.1:p.Asn2004His
NM_001456.3:c.5986A>C	NP_001447.2:p.Asn1996His
XM_011531127.1:c.5914A>C	XP_011529429.1:p.Asn1972His
XM_011531128.1:c.5890A>C	XP_011529430.1:p.Asn1964His
XM_011531129.1:c.5836A>C	XP_011529431.1:p.Asn1946His
XM_011531130.1:c.5812A>C	XP_011529432.1:p.Asn1938His
XM_011531131.1:c.5809A>C	XP_011529433.1:p.Asn1937His
NM_001110556.2:c.6010A>C MANE Select	NP_001104026.1:p.Asn2004His
NM_001456.4:c.5986A>C	NP_001447.2:p.Asn1996His