Canonical Allele Identifier: CA10610733

Gene: CTH

Linked Data

• ClinVar Variation Id: 298046
• ClinVar RCV Id: RCV000343042
• dbSNP Id: rs76751106
• gnomAD v2: 1-70905199-T-C
• gnomAD v3: 1-70439516-T-C
• gnomAD v4: 1-70439516-T-C
• MyVariant Identifiers: chr1:g.70905199T>C (hg19) ; chr1:g.70439516T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.70439516T>C , CM000663.2:g.70439516T>C	GRCh38
NC_000001.10:g.70905199T>C , CM000663.1:g.70905199T>C	GRCh37
NC_000001.9:g.70677787T>C	NCBI36
NG_008041.1:g.33245T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370938.8:c.*389T>C MANE Select	ENSP00000359976.3:n.*389T>C
ENST00000370938.7:c.*389T>C	ENSP00000359976.3:n.*389T>C
ENST00000411986.6:c.*389T>C	ENSP00000413407.2:n.*389T>C
NM_001190463.1:c.*389T>C	NP_001177392.1:n.*389T>C
NM_001902.5:c.*389T>C	NP_001893.2:n.*389T>C
NM_153742.4:c.*389T>C	NP_714964.2:n.*389T>C
XM_005270509.2:c.*389T>C	XP_005270566.1:n.*389T>C
XM_011540787.1:c.*389T>C	XP_011539089.1:n.*389T>C
XM_005270509.3:c.*389T>C	XP_005270566.1:n.*389T>C
XM_017000416.2:c.*389T>C	XP_016855905.1:n.*389T>C
NM_001902.6:c.*389T>C MANE Select	NP_001893.2:n.*389T>C
NM_001190463.2:c.*389T>C	NP_001177392.1:n.*389T>C
NM_153742.5:c.*389T>C	NP_714964.2:n.*389T>C