Canonical Allele Identifier: CA186043

Gene: CLHC1

Linked Data

• ClinVar Variation Id: 183280
• ClinVar RCV Id: RCV000162101
• dbSNP Id: rs144133542
• ExAC: 2:55408742 C / T
• gnomAD v2: 2-55408742-C-T
• gnomAD v3: 2-55181606-C-T
• gnomAD v4: 2-55181606-C-T
• MyVariant Identifiers: chr2:g.55408742C>T (hg19) ; chr2:g.55181606C>T (hg38)
• PubMed: PMID:25558065

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55181606C>T , CM000664.2:g.55181606C>T	GRCh38
NC_000002.11:g.55408742C>T , CM000664.1:g.55408742C>T	GRCh37
NC_000002.10:g.55262246C>T	NCBI36
NG_033063.1:g.55958G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401408.6:c.1145G>A MANE Select	ENSP00000384869.1:p.Arg382Gln
ENST00000401408.5:c.1145G>A	ENSP00000384869.1:p.Arg382Gln
ENST00000406076.5:c.779G>A	ENSP00000385512.1:p.Arg260Gln
ENST00000407122.5:c.1145G>A	ENSP00000385778.1:p.Arg382Gln
ENST00000411884.2:c.244-3825G>A	ENSP00000399821.2:n.244-3825G>A
ENST00000428621.5:c.*37G>A	ENSP00000401526.1:n.*37G>A
ENST00000487320.5:n.354-894G>A
ENST00000494539.5:n.69-3825G>A
NM_001135598.1:c.779G>A	NP_001129070.1:p.Arg260Gln
NM_152385.2:c.1145G>A	NP_689598.2:p.Arg382Gln
XM_005264136.2:c.1145G>A	XP_005264193.1:p.Arg382Gln
XM_006711937.2:c.818G>A	XP_006712000.1:p.Arg273Gln
XM_006711938.2:c.305G>A	XP_006712001.1:p.Arg102Gln
XM_006711939.2:c.263G>A	XP_006712002.1:p.Arg88Gln
XM_011532518.1:c.1145G>A	XP_011530820.1:p.Arg382Gln
XM_011532519.1:c.1145G>A	XP_011530821.1:p.Arg382Gln
XM_011532520.1:c.1145G>A	XP_011530822.1:p.Arg382Gln
XM_011532521.1:c.1145G>A	XP_011530823.1:p.Arg382Gln
XM_011532522.1:c.1145G>A	XP_011530824.1:p.Arg382Gln
XM_011532523.1:c.1145G>A	XP_011530825.1:p.Arg382Gln
XM_011532524.1:c.1145G>A	XP_011530826.1:p.Arg382Gln
XM_011532525.1:c.1145G>A	XP_011530827.1:p.Arg382Gln
XM_011532526.1:c.947G>A	XP_011530828.1:p.Arg316Gln
XM_011532527.1:c.779G>A	XP_011530829.1:p.Arg260Gln
XM_011532528.1:c.779G>A	XP_011530830.1:p.Arg260Gln
XM_011532529.1:c.779G>A	XP_011530831.1:p.Arg260Gln
XM_011532530.1:c.779G>A	XP_011530832.1:p.Arg260Gln
XM_011532531.1:c.779G>A	XP_011530833.1:p.Arg260Gln
XM_011532532.1:c.1007-3825G>A	XP_011530834.1:n.1007-3825G>A
XM_011532533.1:c.725G>A	XP_011530835.1:p.Arg242Gln
XM_011532534.1:c.725G>A	XP_011530836.1:p.Arg242Gln
XM_011532535.1:c.644G>A	XP_011530837.1:p.Arg215Gln
XM_011532536.1:c.1145G>A	XP_011530838.1:p.Arg382Gln
XM_011532537.1:c.1007-894G>A	XP_011530839.1:n.1007-894G>A
XM_011532538.1:c.155G>A	XP_011530840.1:p.Arg52Gln
NM_001353779.1:c.581G>A	NP_001340708.1:p.Arg194Gln
NM_001353780.1:c.947G>A	NP_001340709.1:p.Arg316Gln
NM_001353781.1:c.779G>A	NP_001340710.1:p.Arg260Gln
NM_001353782.1:c.725G>A	NP_001340711.1:p.Arg242Gln
NM_001353783.1:c.725G>A	NP_001340712.1:p.Arg242Gln
NM_001353784.1:c.779G>A	NP_001340713.1:p.Arg260Gln
NM_001353785.1:c.527G>A	NP_001340714.1:p.Arg176Gln
NM_001353786.1:c.581G>A	NP_001340715.1:p.Arg194Gln
NM_001353787.1:c.581G>A	NP_001340716.1:p.Arg194Gln
NM_152385.3:c.1145G>A	NP_689598.2:p.Arg382Gln
NR_148538.1:n.576-3825G>A
NR_148539.1:n.271G>A
NR_148540.1:n.1612G>A
NR_148541.1:n.1315G>A
NR_148542.1:n.133-3825G>A
NR_148543.1:n.530G>A
NM_152385.4:c.1145G>A MANE Select	NP_689598.2:p.Arg382Gln
NM_001353779.2:c.581G>A	NP_001340708.1:p.Arg194Gln
NM_001353780.2:c.947G>A	NP_001340709.1:p.Arg316Gln
NM_001353781.2:c.779G>A	NP_001340710.1:p.Arg260Gln
NM_001353782.2:c.725G>A	NP_001340711.1:p.Arg242Gln
NM_001353783.2:c.725G>A	NP_001340712.1:p.Arg242Gln
NM_001353784.2:c.779G>A	NP_001340713.1:p.Arg260Gln
NM_001353785.2:c.527G>A	NP_001340714.1:p.Arg176Gln
NM_001353786.2:c.581G>A	NP_001340715.1:p.Arg194Gln
NM_001353787.2:c.581G>A	NP_001340716.1:p.Arg194Gln
NR_148538.2:n.502-3825G>A
NR_148539.2:n.197G>A
NR_148540.2:n.1538G>A
NR_148541.2:n.1241G>A
NR_148542.2:n.59-3825G>A
NR_148543.2:n.456G>A
NM_001135598.2:c.779G>A	NP_001129070.1:p.Arg260Gln