Canonical Allele Identifier: CA121565
Gene: FHL1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 11557
ClinVar RCV Id: RCV000012313
dbSNP Id: rs122459149

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.136208578T>C , CM000685.2:g.136208578T>C GRCh38
NC_000023.10:g.135290737T>C , CM000685.1:g.135290737T>C GRCh37
NC_000023.9:g.135118403T>C NCBI36
NG_015895.1:g.66179T>C

Transcript Alleles

HGVS Amino-acid change
NM_001159699.1:c.673T>C VV NP_001153171.1:p.Cys225Arg
NM_001159700.1:c.625T>C VV NP_001153172.1:p.Cys209Arg
NM_001159701.1:c.712T>C VV NP_001153173.1:p.Cys238Arg
NM_001159702.2:c.625T>C VV NP_001153174.1:p.Cys209Arg
NM_001159703.1:c.501+617T>C VV NP_001153175.1:p.=
NM_001159704.1:c.625T>C VV NP_001153176.1:p.Cys209Arg
NM_001167819.1:c.625T>C VV NP_001161291.1:p.Cys209Arg
NM_001449.4:c.625T>C VV NP_001440.2:p.Cys209Arg
NR_027621.1:n.1036T>C
XM_006724743.2:c.673T>C XP_006724806.1:p.Cys225Arg
XM_006724744.2:c.625T>C XP_006724807.1:p.Cys209Arg
XM_006724745.2:c.625T>C XP_006724808.1:p.Cys209Arg
XM_006724746.2:c.625T>C XP_006724809.1:p.Cys209Arg
XM_006724747.2:c.625T>C XP_006724810.1:p.Cys209Arg
XM_011531316.1:c.549+617T>C XP_011529618.1:p.=
NM_001330659.1:c.549+617T>C VV NP_001317588.1:p.=
XM_006724744.3:c.625T>C XP_006724807.1:p.Cys209Arg
XM_006724745.4:c.625T>C XP_006724808.1:p.Cys209Arg
XM_006724746.3:c.625T>C XP_006724809.1:p.Cys209Arg
XM_006724747.3:c.625T>C XP_006724810.1:p.Cys209Arg
XM_017029357.2:c.625T>C XP_016884846.1:p.Cys209Arg
XM_024452353.1:c.625T>C XP_024308121.1:p.Cys209Arg
XM_024452354.1:c.625T>C XP_024308122.1:p.Cys209Arg
XM_024452355.1:c.625T>C XP_024308123.1:p.Cys209Arg
NM_001449.5:c.625T>C VV MANE Preferred NP_001440.2:p.Cys209Arg
ENST00000345434.7:c.625T>C ENSP00000071281.6:p.Cys209Arg
ENST00000370674.3:c.625T>C ENSP00000359708.1:p.Cys209Arg
ENST00000370676.7:c.549+617T>C ENSP00000359710.3:p.=
ENST00000370683.5:c.673T>C ENSP00000359717.1:p.Cys225Arg
ENST00000370690.7:c.625T>C ENSP00000359724.3:p.Cys209Arg
ENST00000394153.6:c.625T>C ENSP00000377709.2:p.Cys209Arg
ENST00000394155.6:c.625T>C ENSP00000377710.2:p.Cys209Arg
ENST00000535737.5:c.625T>C ENSP00000444815.1:p.Cys209Arg
ENST00000539015.5:c.712T>C ENSP00000437673.1:p.Cys238Arg
ENST00000543669.5:c.625T>C ENSP00000443333.1:p.Cys209Arg
ENST00000618438.4:c.501+617T>C ENSP00000477609.1:p.=
ENST00000626004.1:n.329T>C
ENST00000628568.1:c.625T>C ENSP00000486782.1:p.Cys209Arg
ENST00000629039.2:c.625T>C ENSP00000486439.1:p.Cys209Arg
ENST00000630084.2:c.625T>C ENSP00000485897.1:p.Cys209Arg