Canonical Allele Identifier: CA523426611

Gene: CTH

Linked Data

• dbSNP Id: rs1179719115
• gnomAD v2: 1-70904814-T-A
• gnomAD v3: 1-70439131-T-A
• gnomAD v4: 1-70439131-T-A
• MyVariant Identifiers: chr1:g.70904814T>A (hg19) ; chr1:g.70439131T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.70439131T>A , CM000663.2:g.70439131T>A	GRCh38
NC_000001.10:g.70904814T>A , CM000663.1:g.70904814T>A	GRCh37
NC_000001.9:g.70677402T>A	NCBI36
NG_008041.1:g.32860T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370938.8:c.*4T>A MANE Select	ENSP00000359976.3:n.*4T>A
ENST00000346806.2:c.*4T>A	ENSP00000311554.2:n.*4T>A
ENST00000370938.7:c.*4T>A	ENSP00000359976.3:n.*4T>A
ENST00000411986.6:c.*4T>A	ENSP00000413407.2:n.*4T>A
ENST00000482383.1:n.497T>A
NM_001190463.1:c.*4T>A	NP_001177392.1:n.*4T>A
NM_001902.5:c.*4T>A	NP_001893.2:n.*4T>A
NM_153742.4:c.*4T>A	NP_714964.2:n.*4T>A
XM_005270509.2:c.*4T>A	XP_005270566.1:n.*4T>A
XM_011540787.1:c.*4T>A	XP_011539089.1:n.*4T>A
XM_005270509.3:c.*4T>A	XP_005270566.1:n.*4T>A
XM_017000416.2:c.*4T>A	XP_016855905.1:n.*4T>A
NM_001902.6:c.*4T>A MANE Select	NP_001893.2:n.*4T>A
NM_001190463.2:c.*4T>A	NP_001177392.1:n.*4T>A
NM_153742.5:c.*4T>A	NP_714964.2:n.*4T>A