Canonical Allele Identifier: CA222636

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 94956
• ClinVar RCV Id: RCV000080961 ; RCV000175056 ; RCV000817699 ; RCV003764764
• dbSNP Id: rs398124126
• MyVariant Identifiers: chr2:g.238269763C>T (hg19) ; chr2:g.237361120C>T (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237361120C>T , CM000664.2:g.237361120C>T	GRCh38
NC_000002.11:g.238269763C>T , CM000664.1:g.238269763C>T	GRCh37
NC_000002.10:g.237934502C>T	NCBI36
NG_008676.1:g.58088G>A , LRG_473:g.58088G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.5592+1G>A	ENSP00000315873.4:n.5592+1G>A
ENST00000295550.9:c.6210+1G>A MANE Select	ENSP00000295550.4:n.6210+1G>A
ENST00000295550.8:c.6210+1G>A	ENSP00000295550.4:n.6210+1G>A
ENST00000347401.7:c.4389+1G>A	ENSP00000315609.4:n.4389+1G>A
ENST00000353578.8:c.5592+1G>A	ENSP00000315873.4:n.5592+1G>A
ENST00000409809.5:c.5592+1G>A	ENSP00000386844.1:n.5592+1G>A
ENST00000472056.5:c.4389+1G>A	ENSP00000418285.1:n.4389+1G>A
NM_004369.3:c.6210+1G>A , LRG_473t1:c.6210+1G>A	NP_004360.2:n.6210+1G>A
NM_057166.4:c.4389+1G>A	NP_476507.3:n.4389+1G>A
NM_057167.3:c.5592+1G>A	NP_476508.2:n.5592+1G>A
XM_005246065.1:c.5610+1G>A	XP_005246122.1:n.5610+1G>A
XM_005246066.1:c.4989+1G>A	XP_005246123.1:n.4989+1G>A
XM_006712253.1:c.5709+1G>A	XP_006712316.1:n.5709+1G>A
XM_011510574.1:c.6207+1G>A	XP_011508876.1:n.6207+1G>A
XM_011510575.1:c.3804+1G>A	XP_011508877.1:n.3804+1G>A
XM_017003304.1:c.3804+1G>A	XP_016858793.1:n.3804+1G>A
XM_024452684.1:c.4989+1G>A	XP_024308452.1:n.4989+1G>A
NM_004369.4:c.6210+1G>A MANE Select	NP_004360.2:n.6210+1G>A
NM_057166.5:c.4389+1G>A	NP_476507.3:n.4389+1G>A
NM_057167.4:c.5592+1G>A	NP_476508.2:n.5592+1G>A