Canonical Allele Identifier: CA658799871

Gene: FHL1

Linked Data

• ClinVar Variation Id: 515310
• ClinVar RCV Id: RCV000612700
• dbSNP Id: rs1158663274
• gnomAD v4: X-136147621-C-T
• MyVariant Identifiers: chrX:g.135229780C>T (hg19) ; chrX:g.136147621C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136147621C>T , CM000685.2:g.136147621C>T	GRCh38
NC_000023.10:g.135229780C>T , CM000685.1:g.135229780C>T	GRCh37
NC_000023.9:g.135057446C>T	NCBI36
NG_015895.1:g.5222C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394155.8:c.-108C>T MANE Plus Clinical	ENSP00000377710.2:n.-108C>T
ENST00000651929.2:c.-108C>T	ENSP00000499016.1:n.-108C>T
ENST00000652457.1:c.-108C>T	ENSP00000498503.1:n.-108C>T
ENST00000652745.1:c.-204C>T	ENSP00000498581.1:n.-204C>T
ENST00000370690.7:c.-108C>T	ENSP00000359724.3:n.-108C>T
ENST00000394155.6:c.-108C>T	ENSP00000377710.2:n.-108C>T
ENST00000618438.4:c.-108C>T	ENSP00000477609.1:n.-108C>T
ENST00000627578.2:c.-34C>T	ENSP00000486436.1:n.-34C>T
ENST00000629039.2:c.-101+609C>T	ENSP00000486439.1:n.-101+609C>T
NM_001159702.2:c.-108C>T	NP_001153174.1:n.-108C>T
NM_001159703.1:c.-108C>T	NP_001153175.1:n.-108C>T
NM_001449.4:c.-108C>T	NP_001440.2:n.-108C>T
NR_027621.1:n.311+609C>T
NM_001449.5:c.-108C>T	NP_001440.2:n.-108C>T
NM_001159702.3:c.-108C>T MANE Plus Clinical	NP_001153174.1:n.-108C>T
NM_001159703.2:c.-108C>T	NP_001153175.1:n.-108C>T
NR_027621.2:n.311+609C>T