Canonical Allele Identifier: CA115890

Gene: CTH

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.70430388C>G , CM000663.2:g.70430388C>G	GRCh38
NC_000001.10:g.70896071C>G , CM000663.1:g.70896071C>G	GRCh37
NC_000001.9:g.70668659C>G	NCBI36
NG_008041.1:g.24117C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370938.8:c.718C>G MANE Select	ENSP00000359976.3:p.Gln240Glu
ENST00000346806.2:c.586C>G	ENSP00000311554.2:p.Gln196Glu
ENST00000370938.7:c.718C>G	ENSP00000359976.3:p.Gln240Glu
ENST00000411986.6:c.622C>G	ENSP00000413407.2:p.Gln208Glu
ENST00000464926.1:n.766C>G
NM_001190463.1:c.622C>G	NP_001177392.1:p.Gln208Glu
NM_001902.5:c.718C>G	NP_001893.2:p.Gln240Glu
NM_153742.4:c.586C>G	NP_714964.2:p.Gln196Glu
XM_005270509.2:c.391C>G	XP_005270566.1:p.Gln131Glu
XM_011540787.1:c.148C>G	XP_011539089.1:p.Gln50Glu
XM_005270509.3:c.391C>G	XP_005270566.1:p.Gln131Glu
XM_017000416.2:c.148C>G	XP_016855905.1:p.Gln50Glu
NM_001902.6:c.718C>G MANE Select	NP_001893.2:p.Gln240Glu
NM_001190463.2:c.622C>G	NP_001177392.1:p.Gln208Glu
NM_153742.5:c.586C>G	NP_714964.2:p.Gln196Glu