Canonical Allele Identifier: CA2646204242

Gene: CTH

Linked Data

• gnomAD v4: 1-70439024-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.70439024A>C , CM000663.2:g.70439024A>C	GRCh38
NC_000001.10:g.70904707A>C , CM000663.1:g.70904707A>C	GRCh37
NC_000001.9:g.70677295A>C	NCBI36
NG_008041.1:g.32753A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370938.8:c.1192-77A>C MANE Select	ENSP00000359976.3:n.1192-77A>C
ENST00000346806.2:c.1060-77A>C	ENSP00000311554.2:n.1060-77A>C
ENST00000370938.7:c.1192-77A>C	ENSP00000359976.3:n.1192-77A>C
ENST00000411986.6:c.1096-77A>C	ENSP00000413407.2:n.1096-77A>C
ENST00000482383.1:n.467-77A>C
NM_001190463.1:c.1096-77A>C	NP_001177392.1:n.1096-77A>C
NM_001902.5:c.1192-77A>C	NP_001893.2:n.1192-77A>C
NM_153742.4:c.1060-77A>C	NP_714964.2:n.1060-77A>C
XM_005270509.2:c.865-77A>C	XP_005270566.1:n.865-77A>C
XM_011540787.1:c.622-77A>C	XP_011539089.1:n.622-77A>C
XM_005270509.3:c.865-77A>C	XP_005270566.1:n.865-77A>C
XM_017000416.2:c.622-77A>C	XP_016855905.1:n.622-77A>C
NM_001902.6:c.1192-77A>C MANE Select	NP_001893.2:n.1192-77A>C
NM_001190463.2:c.1096-77A>C	NP_001177392.1:n.1096-77A>C
NM_153742.5:c.1060-77A>C	NP_714964.2:n.1060-77A>C