Canonical Allele Identifier: CA10525127

Gene: FHL1

Linked Data

• ClinVar Variation Id: 995620
• ClinVar RCV Id: RCV001497641 ; RCV001810666 ; RCV002402811
• dbSNP Id: rs758552293
• ExAC: X:135292109 C / T
• gnomAD v2: X-135292109-C-T
• gnomAD v3: X-136209950-C-T
• gnomAD v4: X-136209950-C-T
• MyVariant Identifiers: chrX:g.135292109C>T (hg19) ; chrX:g.136209950C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136209950C>T , CM000685.2:g.136209950C>T	GRCh38
NC_000023.10:g.135292109C>T , CM000685.1:g.135292109C>T	GRCh37
NC_000023.9:g.135119775C>T	NCBI36
NG_015895.1:g.67551C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370683.6:c.816C>T MANE Select	ENSP00000359717.1:p.Ser272=
ENST00000394155.8:c.968C>T MANE Plus Clinical	ENSP00000377710.2:p.Pro323Leu
ENST00000628919.3:c.768C>T	ENSP00000487147.2:p.Ser256=
ENST00000651089.1:c.968C>T	ENSP00000498684.1:p.Pro323Leu
ENST00000651929.2:c.768C>T	ENSP00000499016.1:p.Ser256=
ENST00000652457.1:c.*97C>T	ENSP00000498503.1:n.*97C>T
ENST00000345434.7:c.968C>T	ENSP00000071281.6:p.Pro323Leu
ENST00000370674.3:c.768C>T	ENSP00000359708.1:p.Ser256=
ENST00000370676.7:c.629C>T	ENSP00000359710.3:p.Pro210Leu
ENST00000370683.5:c.816C>T	ENSP00000359717.1:p.Ser272=
ENST00000370690.7:c.768C>T	ENSP00000359724.3:p.Ser256=
ENST00000394153.6:c.768C>T	ENSP00000377709.2:p.Ser256=
ENST00000394155.6:c.968C>T	ENSP00000377710.2:p.Pro323Leu
ENST00000535737.5:c.768C>T	ENSP00000444815.1:p.Ser256=
ENST00000539015.5:c.855C>T	ENSP00000437673.1:p.Ser285=
ENST00000543669.5:c.768C>T	ENSP00000443333.1:p.Ser256=
ENST00000618438.4:c.581C>T	ENSP00000477609.1:p.Pro194Leu
ENST00000628568.1:c.768C>T	ENSP00000486782.1:p.Ser256=
ENST00000629039.2:c.768C>T	ENSP00000486439.1:p.Ser256=
ENST00000630084.2:c.768C>T	ENSP00000485897.1:p.Ser256=
ENST00000630677.1:n.355C>T
NM_001159699.1:c.816C>T	NP_001153171.1:p.Ser272=
NM_001159700.1:c.768C>T	NP_001153172.1:p.Ser256=
NM_001159701.1:c.855C>T	NP_001153173.1:p.Ser285=
NM_001159702.2:c.968C>T	NP_001153174.1:p.Pro323Leu
NM_001159703.1:c.581C>T	NP_001153175.1:p.Pro194Leu
NM_001159704.1:c.768C>T	NP_001153176.1:p.Ser256=
NM_001167819.1:c.768C>T	NP_001161291.1:p.Ser256=
NM_001449.4:c.768C>T	NP_001440.2:p.Ser256=
NR_027621.1:n.1179C>T
XM_006724743.2:c.1016C>T	XP_006724806.1:p.Pro339Leu
XM_006724744.2:c.968C>T	XP_006724807.1:p.Pro323Leu
XM_006724745.2:c.968C>T	XP_006724808.1:p.Pro323Leu
XM_006724746.2:c.968C>T	XP_006724809.1:p.Pro323Leu
XM_006724747.2:c.768C>T	XP_006724810.1:p.Ser256=
XM_011531316.1:c.629C>T	XP_011529618.1:p.Pro210Leu
NM_001330659.1:c.629C>T	NP_001317588.1:p.Pro210Leu
XM_006724744.3:c.968C>T	XP_006724807.1:p.Pro323Leu
XM_006724745.4:c.968C>T	XP_006724808.1:p.Pro323Leu
XM_006724746.3:c.968C>T	XP_006724809.1:p.Pro323Leu
XM_006724747.3:c.768C>T	XP_006724810.1:p.Ser256=
XM_017029357.2:c.768C>T	XP_016884846.1:p.Ser256=
XM_024452353.1:c.968C>T	XP_024308121.1:p.Pro323Leu
XM_024452354.1:c.968C>T	XP_024308122.1:p.Pro323Leu
XM_024452355.1:c.768C>T	XP_024308123.1:p.Ser256=
NM_001449.5:c.768C>T	NP_001440.2:p.Ser256=
NM_001159699.2:c.816C>T MANE Select	NP_001153171.1:p.Ser272=
NM_001159700.2:c.768C>T	NP_001153172.1:p.Ser256=
NM_001159701.2:c.855C>T	NP_001153173.1:p.Ser285=
NM_001159702.3:c.968C>T MANE Plus Clinical	NP_001153174.1:p.Pro323Leu
NM_001159703.2:c.581C>T	NP_001153175.1:p.Pro194Leu
NM_001330659.2:c.629C>T	NP_001317588.1:p.Pro210Leu
NM_001369326.1:c.968C>T	NP_001356255.1:p.Pro323Leu
NM_001369327.1:c.968C>T	NP_001356256.1:p.Pro323Leu
NM_001369328.1:c.968C>T	NP_001356257.1:p.Pro323Leu
NM_001369329.1:c.768C>T	NP_001356258.1:p.Ser256=
NM_001369330.1:c.768C>T	NP_001356259.1:p.Ser256=
NM_001369331.1:c.768C>T	NP_001356260.1:p.Ser256=
NM_001369327.2:c.968C>T	NP_001356256.1:p.Pro323Leu
NR_027621.2:n.1179C>T