Canonical Allele Identifier: CA2188509

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 291226
• ClinVar RCV Id: RCV000380316 ; RCV000726678 ; RCV001203447 ; RCV004549631
• dbSNP Id: rs780489910
• ExAC: 2:238271990 C / T
• gnomAD v2: 2-238271990-C-T
• gnomAD v3: 2-237363347-C-T
• gnomAD v4: 2-237363347-C-T
• MyVariant Identifiers: chr2:g.238271990C>T (hg19) ; chr2:g.237363347C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237363347C>T , CM000664.2:g.237363347C>T	GRCh38
NC_000002.11:g.238271990C>T , CM000664.1:g.238271990C>T	GRCh37
NC_000002.10:g.237936729C>T	NCBI36
NG_008676.1:g.55861G>A , LRG_473:g.55861G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.5351G>A	ENSP00000315873.4:p.Arg1784Gln
ENST00000295550.9:c.5969G>A MANE Select	ENSP00000295550.4:p.Arg1990Gln
ENST00000295550.8:c.5969G>A	ENSP00000295550.4:p.Arg1990Gln
ENST00000347401.7:c.4148G>A	ENSP00000315609.4:p.Arg1383Gln
ENST00000353578.8:c.5351G>A	ENSP00000315873.4:p.Arg1784Gln
ENST00000409809.5:c.5351G>A	ENSP00000386844.1:p.Arg1784Gln
ENST00000472056.5:c.4148G>A	ENSP00000418285.1:p.Arg1383Gln
NM_004369.3:c.5969G>A , LRG_473t1:c.5969G>A	NP_004360.2:p.Arg1990Gln
NM_057166.4:c.4148G>A	NP_476507.3:p.Arg1383Gln
NM_057167.3:c.5351G>A	NP_476508.2:p.Arg1784Gln
XM_005246065.1:c.5369G>A	XP_005246122.1:p.Arg1790Gln
XM_005246066.1:c.4748G>A	XP_005246123.1:p.Arg1583Gln
XM_006712253.1:c.5468G>A	XP_006712316.1:p.Arg1823Gln
XM_011510574.1:c.5966G>A	XP_011508876.1:p.Arg1989Gln
XM_011510575.1:c.3563G>A	XP_011508877.1:p.Arg1188Gln
XM_017003304.1:c.3563G>A	XP_016858793.1:p.Arg1188Gln
XM_024452684.1:c.4748G>A	XP_024308452.1:p.Arg1583Gln
NM_004369.4:c.5969G>A MANE Select	NP_004360.2:p.Arg1990Gln
NM_057166.5:c.4148G>A	NP_476507.3:p.Arg1383Gln
NM_057167.4:c.5351G>A	NP_476508.2:p.Arg1784Gln