Canonical Allele Identifier: CA340839864

Gene: CTH

Linked Data

• MyVariant Identifiers: chr1:g.70904802C>A (hg19) ; chr1:g.70439119C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.70439119C>A , CM000663.2:g.70439119C>A	GRCh38
NC_000001.10:g.70904802C>A , CM000663.1:g.70904802C>A	GRCh37
NC_000001.9:g.70677390C>A	NCBI36
NG_008041.1:g.32848C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370938.8:c.1210C>A MANE Select	ENSP00000359976.3:p.His404Asn
ENST00000346806.2:c.1078C>A	ENSP00000311554.2:p.His360Asn
ENST00000370938.7:c.1210C>A	ENSP00000359976.3:p.His404Asn
ENST00000411986.6:c.1114C>A	ENSP00000413407.2:p.His372Asn
ENST00000482383.1:n.485C>A
NM_001190463.1:c.1114C>A	NP_001177392.1:p.His372Asn
NM_001902.5:c.1210C>A	NP_001893.2:p.His404Asn
NM_153742.4:c.1078C>A	NP_714964.2:p.His360Asn
XM_005270509.2:c.883C>A	XP_005270566.1:p.His295Asn
XM_011540787.1:c.640C>A	XP_011539089.1:p.His214Asn
XM_005270509.3:c.883C>A	XP_005270566.1:p.His295Asn
XM_017000416.2:c.640C>A	XP_016855905.1:p.His214Asn
NM_001902.6:c.1210C>A MANE Select	NP_001893.2:p.His404Asn
NM_001190463.2:c.1114C>A	NP_001177392.1:p.His372Asn
NM_153742.5:c.1078C>A	NP_714964.2:p.His360Asn