Canonical Allele Identifier: CA414609761

Gene: FHL1

Linked Data

• ClinVar Variation Id: 578144
• ClinVar RCV Id: RCV000701066 ; RCV003144554
• dbSNP Id: rs1569530823
• gnomAD v4: X-136209937-G-A
• MyVariant Identifiers: chrX:g.135292096G>A (hg19) ; chrX:g.136209937G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136209937G>A , CM000685.2:g.136209937G>A	GRCh38
NC_000023.10:g.135292096G>A , CM000685.1:g.135292096G>A	GRCh37
NC_000023.9:g.135119762G>A	NCBI36
NG_015895.1:g.67538G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370683.6:c.803G>A MANE Select	ENSP00000359717.1:p.Cys268Tyr
ENST00000394155.8:c.955G>A MANE Plus Clinical	ENSP00000377710.2:p.Ala319Thr
ENST00000628919.3:c.755G>A	ENSP00000487147.2:p.Cys252Tyr
ENST00000651089.1:c.955G>A	ENSP00000498684.1:p.Ala319Thr
ENST00000651929.2:c.755G>A	ENSP00000499016.1:p.Cys252Tyr
ENST00000652457.1:c.*84G>A	ENSP00000498503.1:n.*84G>A
ENST00000345434.7:c.955G>A	ENSP00000071281.6:p.Ala319Thr
ENST00000370674.3:c.755G>A	ENSP00000359708.1:p.Cys252Tyr
ENST00000370676.7:c.616G>A	ENSP00000359710.3:p.Ala206Thr
ENST00000370683.5:c.803G>A	ENSP00000359717.1:p.Cys268Tyr
ENST00000370690.7:c.755G>A	ENSP00000359724.3:p.Cys252Tyr
ENST00000394153.6:c.755G>A	ENSP00000377709.2:p.Cys252Tyr
ENST00000394155.6:c.955G>A	ENSP00000377710.2:p.Ala319Thr
ENST00000535737.5:c.755G>A	ENSP00000444815.1:p.Cys252Tyr
ENST00000539015.5:c.842G>A	ENSP00000437673.1:p.Cys281Tyr
ENST00000543669.5:c.755G>A	ENSP00000443333.1:p.Cys252Tyr
ENST00000618438.4:c.568G>A	ENSP00000477609.1:p.Ala190Thr
ENST00000628568.1:c.755G>A	ENSP00000486782.1:p.Cys252Tyr
ENST00000629039.2:c.755G>A	ENSP00000486439.1:p.Cys252Tyr
ENST00000630084.2:c.755G>A	ENSP00000485897.1:p.Cys252Tyr
ENST00000630677.1:n.342G>A
NM_001159699.1:c.803G>A	NP_001153171.1:p.Cys268Tyr
NM_001159700.1:c.755G>A	NP_001153172.1:p.Cys252Tyr
NM_001159701.1:c.842G>A	NP_001153173.1:p.Cys281Tyr
NM_001159702.2:c.955G>A	NP_001153174.1:p.Ala319Thr
NM_001159703.1:c.568G>A	NP_001153175.1:p.Ala190Thr
NM_001159704.1:c.755G>A	NP_001153176.1:p.Cys252Tyr
NM_001167819.1:c.755G>A	NP_001161291.1:p.Cys252Tyr
NM_001449.4:c.755G>A	NP_001440.2:p.Cys252Tyr
NR_027621.1:n.1166G>A
XM_006724743.2:c.1003G>A	XP_006724806.1:p.Ala335Thr
XM_006724744.2:c.955G>A	XP_006724807.1:p.Ala319Thr
XM_006724745.2:c.955G>A	XP_006724808.1:p.Ala319Thr
XM_006724746.2:c.955G>A	XP_006724809.1:p.Ala319Thr
XM_006724747.2:c.755G>A	XP_006724810.1:p.Cys252Tyr
XM_011531316.1:c.616G>A	XP_011529618.1:p.Ala206Thr
NM_001330659.1:c.616G>A	NP_001317588.1:p.Ala206Thr
XM_006724744.3:c.955G>A	XP_006724807.1:p.Ala319Thr
XM_006724745.4:c.955G>A	XP_006724808.1:p.Ala319Thr
XM_006724746.3:c.955G>A	XP_006724809.1:p.Ala319Thr
XM_006724747.3:c.755G>A	XP_006724810.1:p.Cys252Tyr
XM_017029357.2:c.755G>A	XP_016884846.1:p.Cys252Tyr
XM_024452353.1:c.955G>A	XP_024308121.1:p.Ala319Thr
XM_024452354.1:c.955G>A	XP_024308122.1:p.Ala319Thr
XM_024452355.1:c.755G>A	XP_024308123.1:p.Cys252Tyr
NM_001449.5:c.755G>A	NP_001440.2:p.Cys252Tyr
NM_001159699.2:c.803G>A MANE Select	NP_001153171.1:p.Cys268Tyr
NM_001159700.2:c.755G>A	NP_001153172.1:p.Cys252Tyr
NM_001159701.2:c.842G>A	NP_001153173.1:p.Cys281Tyr
NM_001159702.3:c.955G>A MANE Plus Clinical	NP_001153174.1:p.Ala319Thr
NM_001159703.2:c.568G>A	NP_001153175.1:p.Ala190Thr
NM_001330659.2:c.616G>A	NP_001317588.1:p.Ala206Thr
NM_001369326.1:c.955G>A	NP_001356255.1:p.Ala319Thr
NM_001369327.1:c.955G>A	NP_001356256.1:p.Ala319Thr
NM_001369328.1:c.955G>A	NP_001356257.1:p.Ala319Thr
NM_001369329.1:c.755G>A	NP_001356258.1:p.Cys252Tyr
NM_001369330.1:c.755G>A	NP_001356259.1:p.Cys252Tyr
NM_001369331.1:c.755G>A	NP_001356260.1:p.Cys252Tyr
NM_001369327.2:c.955G>A	NP_001356256.1:p.Ala319Thr
NR_027621.2:n.1166G>A