Canonical Allele Identifier: CA351209193

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 476549
• ClinVar RCV Id: RCV000549430
• dbSNP Id: rs1268762655
• gnomAD v2: 2-238258816-C-T
• gnomAD v3: 2-237350173-C-T
• gnomAD v4: 2-237350173-C-T
• COSMIC: COSM287149
• MyVariant Identifiers: chr2:g.238258816C>T (hg19) ; chr2:g.237350173C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237350173C>T , CM000664.2:g.237350173C>T	GRCh38
NC_000002.11:g.238258816C>T , CM000664.1:g.238258816C>T	GRCh37
NC_000002.10:g.237923555C>T	NCBI36
NG_008676.1:g.69035G>A , LRG_473:g.69035G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000353578.9:c.6235G>A	ENSP00000315873.4:p.Gly2079Arg
ENST00000295550.9:c.6853G>A MANE Select	ENSP00000295550.4:p.Gly2285Arg
ENST00000295550.8:c.6853G>A	ENSP00000295550.4:p.Gly2285Arg
ENST00000347401.7:c.5032G>A	ENSP00000315609.4:p.Gly1678Arg
ENST00000353578.8:c.6235G>A	ENSP00000315873.4:p.Gly2079Arg
ENST00000409809.5:c.6235G>A	ENSP00000386844.1:p.Gly2079Arg
ENST00000472056.5:c.5032G>A	ENSP00000418285.1:p.Gly1678Arg
ENST00000491769.1:n.1107G>A
NM_004369.3:c.6853G>A , LRG_473t1:c.6853G>A	NP_004360.2:p.Gly2285Arg
NM_057166.4:c.5032G>A	NP_476507.3:p.Gly1678Arg
NM_057167.3:c.6235G>A	NP_476508.2:p.Gly2079Arg
XM_005246065.1:c.6253G>A	XP_005246122.1:p.Gly2085Arg
XM_005246066.1:c.5632G>A	XP_005246123.1:p.Gly1878Arg
XM_006712253.1:c.6352G>A	XP_006712316.1:p.Gly2118Arg
XM_011510574.1:c.6850G>A	XP_011508876.1:p.Gly2284Arg
XM_011510575.1:c.4447G>A	XP_011508877.1:p.Gly1483Arg
XM_017003304.1:c.4447G>A	XP_016858793.1:p.Gly1483Arg
XM_024452684.1:c.5632G>A	XP_024308452.1:p.Gly1878Arg
NM_004369.4:c.6853G>A MANE Select	NP_004360.2:p.Gly2285Arg
NM_057166.5:c.5032G>A	NP_476507.3:p.Gly1678Arg
NM_057167.4:c.6235G>A	NP_476508.2:p.Gly2079Arg