Canonical Allele Identifier: CA115891
Gene: CTH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2941
dbSNP Id: rs1021737

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.70439117G>T , CM000663.2:g.70439117G>T GRCh38
NC_000001.10:g.70904800G>T , CM000663.1:g.70904800G>T GRCh37
NC_000001.9:g.70677388G>T NCBI36
NG_008041.1:g.32846G>T

Transcript Alleles

HGVS Amino-acid change
NM_001190463.1:c.1112G>T VV NP_001177392.1:p.Ser371Ile
NM_001902.5:c.1208G>T VV NP_001893.2:p.Ser403Ile
NM_153742.4:c.1076G>T VV NP_714964.2:p.Ser359Ile
XM_005270509.2:c.881G>T XP_005270566.1:p.Ser294Ile
XM_011540787.1:c.638G>T XP_011539089.1:p.Ser213Ile
XM_005270509.3:c.881G>T XP_005270566.1:p.Ser294Ile
XM_017000416.2:c.638G>T XP_016855905.1:p.Ser213Ile
ENST00000346806.2:c.1076G>T ENSP00000311554.2:p.Ser359Ile
ENST00000370938.7:c.1208G>T ENSP00000359976.3:p.Ser403Ile
ENST00000411986.6:c.1112G>T ENSP00000413407.2:p.Ser371Ile
ENST00000482383.1:n.483G>T