Canonical Allele Identifier: CA340839886

Gene: CTH

Linked Data

• gnomAD v4: 1-70439125-T-C
• MyVariant Identifiers: chr1:g.70904808T>C (hg19) ; chr1:g.70439125T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.70439125T>C , CM000663.2:g.70439125T>C	GRCh38
NC_000001.10:g.70904808T>C , CM000663.1:g.70904808T>C	GRCh37
NC_000001.9:g.70677396T>C	NCBI36
NG_008041.1:g.32854T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370938.8:c.1216T>C MANE Select	ENSP00000359976.3:p.Ter406Gln
ENST00000346806.2:c.1084T>C	ENSP00000311554.2:p.Ter362Gln
ENST00000370938.7:c.1216T>C	ENSP00000359976.3:p.Ter406Gln
ENST00000411986.6:c.1120T>C	ENSP00000413407.2:p.Ter374Gln
ENST00000482383.1:n.491T>C
NM_001190463.1:c.1120T>C	NP_001177392.1:p.Ter374Gln
NM_001902.5:c.1216T>C	NP_001893.2:p.Ter406Gln
NM_153742.4:c.1084T>C	NP_714964.2:p.Ter362Gln
XM_005270509.2:c.889T>C	XP_005270566.1:p.Ter297Gln
XM_011540787.1:c.646T>C	XP_011539089.1:p.Ter216Gln
XM_005270509.3:c.889T>C	XP_005270566.1:p.Ter297Gln
XM_017000416.2:c.646T>C	XP_016855905.1:p.Ter216Gln
NM_001902.6:c.1216T>C MANE Select	NP_001893.2:p.Ter406Gln
NM_001190463.2:c.1120T>C	NP_001177392.1:p.Ter374Gln
NM_153742.5:c.1084T>C	NP_714964.2:p.Ter362Gln