Canonical Allele Identifier: CA10611442

Gene: CTH

Linked Data

• ClinVar Variation Id: 298041
• ClinVar RCV Id: RCV000374504
• dbSNP Id: rs886046512
• gnomAD v4: 1-70439225-G-A
• MyVariant Identifiers: chr1:g.70904908G>A (hg19) ; chr1:g.70439225G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.70439225G>A , CM000663.2:g.70439225G>A	GRCh38
NC_000001.10:g.70904908G>A , CM000663.1:g.70904908G>A	GRCh37
NC_000001.9:g.70677496G>A	NCBI36
NG_008041.1:g.32954G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370938.8:c.*98G>A MANE Select	ENSP00000359976.3:n.*98G>A
ENST00000370938.7:c.*98G>A	ENSP00000359976.3:n.*98G>A
ENST00000411986.6:c.*98G>A	ENSP00000413407.2:n.*98G>A
ENST00000482383.1:n.591G>A
NM_001190463.1:c.*98G>A	NP_001177392.1:n.*98G>A
NM_001902.5:c.*98G>A	NP_001893.2:n.*98G>A
NM_153742.4:c.*98G>A	NP_714964.2:n.*98G>A
XM_005270509.2:c.*98G>A	XP_005270566.1:n.*98G>A
XM_011540787.1:c.*98G>A	XP_011539089.1:n.*98G>A
XM_005270509.3:c.*98G>A	XP_005270566.1:n.*98G>A
XM_017000416.2:c.*98G>A	XP_016855905.1:n.*98G>A
NM_001902.6:c.*98G>A MANE Select	NP_001893.2:n.*98G>A
NM_001190463.2:c.*98G>A	NP_001177392.1:n.*98G>A
NM_153742.5:c.*98G>A	NP_714964.2:n.*98G>A