Canonical Allele Identifier: CA275040

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 194744
• ClinVar RCV Id: RCV000175185 ; RCV000724747
• dbSNP Id: rs794727188
• MyVariant Identifiers: chr2:g.238268774C>T (hg19) ; chr2:g.237360131C>T (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237360131C>T , CM000664.2:g.237360131C>T	GRCh38
NC_000002.11:g.238268774C>T , CM000664.1:g.238268774C>T	GRCh37
NC_000002.10:g.237933513C>T	NCBI36
NG_008676.1:g.59077G>A , LRG_473:g.59077G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.5621G>A	ENSP00000315873.4:p.Gly1874Asp
ENST00000295550.9:c.6239G>A MANE Select	ENSP00000295550.4:p.Gly2080Asp
ENST00000295550.8:c.6239G>A	ENSP00000295550.4:p.Gly2080Asp
ENST00000347401.7:c.4418G>A	ENSP00000315609.4:p.Gly1473Asp
ENST00000353578.8:c.5621G>A	ENSP00000315873.4:p.Gly1874Asp
ENST00000409809.5:c.5621G>A	ENSP00000386844.1:p.Gly1874Asp
ENST00000472056.5:c.4418G>A	ENSP00000418285.1:p.Gly1473Asp
NM_004369.3:c.6239G>A , LRG_473t1:c.6239G>A	NP_004360.2:p.Gly2080Asp
NM_057166.4:c.4418G>A	NP_476507.3:p.Gly1473Asp
NM_057167.3:c.5621G>A	NP_476508.2:p.Gly1874Asp
XM_005246065.1:c.5639G>A	XP_005246122.1:p.Gly1880Asp
XM_005246066.1:c.5018G>A	XP_005246123.1:p.Gly1673Asp
XM_006712253.1:c.5738G>A	XP_006712316.1:p.Gly1913Asp
XM_011510574.1:c.6236G>A	XP_011508876.1:p.Gly2079Asp
XM_011510575.1:c.3833G>A	XP_011508877.1:p.Gly1278Asp
XM_017003304.1:c.3833G>A	XP_016858793.1:p.Gly1278Asp
XM_024452684.1:c.5018G>A	XP_024308452.1:p.Gly1673Asp
NM_004369.4:c.6239G>A MANE Select	NP_004360.2:p.Gly2080Asp
NM_057166.5:c.4418G>A	NP_476507.3:p.Gly1473Asp
NM_057167.4:c.5621G>A	NP_476508.2:p.Gly1874Asp