Canonical Allele Identifier: CA200148

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 192263
• ClinVar RCV Id: RCV000172851 ; RCV000592070 ; RCV000688238
• dbSNP Id: rs767517186
• ExAC: 2:238243533 C / G
• gnomAD v2: 2-238243533-C-G
• gnomAD v3: 2-237334890-C-G
• gnomAD v4: 2-237334890-C-G
• MyVariant Identifiers: chr2:g.238243533C>G (hg19) ; chr2:g.237334890C>G (hg38)
• PubMed: PMID:26004199

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334890C>G , CM000664.2:g.237334890C>G	GRCh38
NC_000002.11:g.238243533C>G , CM000664.1:g.238243533C>G	GRCh37
NC_000002.10:g.237908272C>G	NCBI36
NG_008676.1:g.84318G>C , LRG_473:g.84318G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1610+1245G>C
ENST00000353578.9:c.8348-1G>C	ENSP00000315873.4:n.8348-1G>C
ENST00000682957.1:c.1093-1G>C
ENST00000295550.9:c.8966-1G>C MANE Select	ENSP00000295550.4:n.8966-1G>C
ENST00000295550.8:c.8966-1G>C	ENSP00000295550.4:n.8966-1G>C
ENST00000347401.7:c.7142-1G>C	ENSP00000315609.4:n.7142-1G>C
ENST00000353578.8:c.8348-1G>C	ENSP00000315873.4:n.8348-1G>C
ENST00000409809.5:c.8348-1G>C	ENSP00000386844.1:n.8348-1G>C
ENST00000472056.5:c.7145-1G>C	ENSP00000418285.1:n.7145-1G>C
ENST00000491769.1:n.5408-1G>C
NM_004369.3:c.8966-1G>C , LRG_473t1:c.8966-1G>C	NP_004360.2:n.8966-1G>C
NM_057166.4:c.7145-1G>C	NP_476507.3:n.7145-1G>C
NM_057167.3:c.8348-1G>C	NP_476508.2:n.8348-1G>C
XM_005246065.1:c.8366-1G>C	XP_005246122.1:n.8366-1G>C
XM_005246066.1:c.7745-1G>C	XP_005246123.1:n.7745-1G>C
XM_006712253.1:c.8465-1G>C	XP_006712316.1:n.8465-1G>C
XM_011510574.1:c.8963-1G>C	XP_011508876.1:n.8963-1G>C
XM_011510575.1:c.6560-1G>C	XP_011508877.1:n.6560-1G>C
XM_017003304.1:c.6560-1G>C	XP_016858793.1:n.6560-1G>C
XM_024452684.1:c.7745-1G>C	XP_024308452.1:n.7745-1G>C
NM_004369.4:c.8966-1G>C MANE Select	NP_004360.2:n.8966-1G>C
NM_057166.5:c.7145-1G>C	NP_476507.3:n.7145-1G>C
NM_057167.4:c.8348-1G>C	NP_476508.2:n.8348-1G>C