Canonical Allele Identifier: CA371634879

Gene: CTHRC1

Linked Data

• MyVariant Identifiers: chr8:g.104390308T>A (hg19) ; chr8:g.103378080T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.103378080T>A , CM000670.2:g.103378080T>A	GRCh38
NC_000008.10:g.104390308T>A , CM000670.1:g.104390308T>A	GRCh37
NC_000008.9:g.104459484T>A	NCBI36
NG_031985.1:g.11566T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330295.10:c.426T>A MANE Select	ENSP00000330523.5:p.Ser142Arg
ENST00000330295.9:c.426T>A	ENSP00000330523.5:p.Ser142Arg
ENST00000520337.1:c.384T>A	ENSP00000430550.1:p.Ser128Arg
ENST00000520880.1:c.36T>A	ENSP00000430399.1:p.Ser12Arg
NM_001256099.1:c.384T>A	NP_001243028.1:p.Ser128Arg
NM_138455.3:c.426T>A	NP_612464.1:p.Ser142Arg
XM_011516824.1:c.372+2121T>A	XP_011515126.1:n.372+2121T>A
XM_011516824.2:c.372+2121T>A	XP_011515126.1:n.372+2121T>A
NM_138455.4:c.426T>A MANE Select	NP_612464.1:p.Ser142Arg
NM_001256099.2:c.384T>A	NP_001243028.1:p.Ser128Arg