Canonical Allele Identifier: CA2187366

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 1035845
• ClinVar RCV Id: RCV001338771
• dbSNP Id: rs769756403
• ExAC: 2:238243428 C / T
• gnomAD v2: 2-238243428-C-T
• gnomAD v3: 2-237334785-C-T
• gnomAD v4: 2-237334785-C-T
• COSMIC: COSM5354259
• MyVariant Identifiers: chr2:g.238243428C>T (hg19) ; chr2:g.237334785C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334785C>T , CM000664.2:g.237334785C>T	GRCh38
NC_000002.11:g.238243428C>T , CM000664.1:g.238243428C>T	GRCh37
NC_000002.10:g.237908167C>T	NCBI36
NG_008676.1:g.84423G>A , LRG_473:g.84423G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.1611-1237G>A
ENST00000353578.9:c.8452G>A	ENSP00000315873.4:p.Val2818Ile
ENST00000682957.1:c.1197G>A
ENST00000295550.9:c.9070G>A MANE Select	ENSP00000295550.4:p.Val3024Ile
ENST00000295550.8:c.9070G>A	ENSP00000295550.4:p.Val3024Ile
ENST00000347401.7:c.7246G>A	ENSP00000315609.4:p.Val2416Ile
ENST00000353578.8:c.8452G>A	ENSP00000315873.4:p.Val2818Ile
ENST00000409809.5:c.8452G>A	ENSP00000386844.1:p.Val2818Ile
ENST00000472056.5:c.7249G>A	ENSP00000418285.1:p.Val2417Ile
ENST00000491769.1:n.5512G>A
ENST00000493608.1:n.2G>A
NM_004369.3:c.9070G>A , LRG_473t1:c.9070G>A	NP_004360.2:p.Val3024Ile
NM_057166.4:c.7249G>A	NP_476507.3:p.Val2417Ile
NM_057167.3:c.8452G>A	NP_476508.2:p.Val2818Ile
XM_005246065.1:c.8470G>A	XP_005246122.1:p.Val2824Ile
XM_005246066.1:c.7849G>A	XP_005246123.1:p.Val2617Ile
XM_006712253.1:c.8569G>A	XP_006712316.1:p.Val2857Ile
XM_011510574.1:c.9067G>A	XP_011508876.1:p.Val3023Ile
XM_011510575.1:c.6664G>A	XP_011508877.1:p.Val2222Ile
XM_017003304.1:c.6664G>A	XP_016858793.1:p.Val2222Ile
XM_024452684.1:c.7849G>A	XP_024308452.1:p.Val2617Ile
NM_004369.4:c.9070G>A MANE Select	NP_004360.2:p.Val3024Ile
NM_057166.5:c.7249G>A	NP_476507.3:p.Val2417Ile
NM_057167.4:c.8452G>A	NP_476508.2:p.Val2818Ile