Canonical Allele Identifier: CA233828

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 166940
• ClinVar RCV Id: RCV000153092 ; RCV002056028 ; RCV003952744
• dbSNP Id: rs536696110
• ExAC: 2:238269821 A / C
• gnomAD v2: 2-238269821-A-C
• gnomAD v3: 2-237361178-A-C
• gnomAD v4: 2-237361178-A-C
• MyVariant Identifiers: chr2:g.238269821A>C (hg19) ; chr2:g.237361178A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237361178A>C , CM000664.2:g.237361178A>C	GRCh38
NC_000002.11:g.238269821A>C , CM000664.1:g.238269821A>C	GRCh37
NC_000002.10:g.237934560A>C	NCBI36
NG_008676.1:g.58030T>G , LRG_473:g.58030T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000353578.9:c.5539-4T>G	ENSP00000315873.4:n.5539-4T>G
ENST00000295550.9:c.6157-4T>G MANE Select	ENSP00000295550.4:n.6157-4T>G
ENST00000295550.8:c.6157-4T>G	ENSP00000295550.4:n.6157-4T>G
ENST00000347401.7:c.4336-4T>G	ENSP00000315609.4:n.4336-4T>G
ENST00000353578.8:c.5539-4T>G	ENSP00000315873.4:n.5539-4T>G
ENST00000409809.5:c.5539-4T>G	ENSP00000386844.1:n.5539-4T>G
ENST00000472056.5:c.4336-4T>G	ENSP00000418285.1:n.4336-4T>G
NM_004369.3:c.6157-4T>G , LRG_473t1:c.6157-4T>G	NP_004360.2:n.6157-4T>G
NM_057166.4:c.4336-4T>G	NP_476507.3:n.4336-4T>G
NM_057167.3:c.5539-4T>G	NP_476508.2:n.5539-4T>G
XM_005246065.1:c.5557-4T>G	XP_005246122.1:n.5557-4T>G
XM_005246066.1:c.4936-4T>G	XP_005246123.1:n.4936-4T>G
XM_006712253.1:c.5656-4T>G	XP_006712316.1:n.5656-4T>G
XM_011510574.1:c.6154-4T>G	XP_011508876.1:n.6154-4T>G
XM_011510575.1:c.3751-4T>G	XP_011508877.1:n.3751-4T>G
XM_017003304.1:c.3751-4T>G	XP_016858793.1:n.3751-4T>G
XM_024452684.1:c.4936-4T>G	XP_024308452.1:n.4936-4T>G
NM_004369.4:c.6157-4T>G MANE Select	NP_004360.2:n.6157-4T>G
NM_057166.5:c.4336-4T>G	NP_476507.3:n.4336-4T>G
NM_057167.4:c.5539-4T>G	NP_476508.2:n.5539-4T>G