Canonical Allele Identifier: CA16617501

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 422102
• ClinVar RCV Id: RCV000486882 ; RCV000800319
• dbSNP Id: rs1064795558
• MyVariant Identifiers: chr2:g.238269807C>T (hg19) ; chr2:g.237361164C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237361164C>T , CM000664.2:g.237361164C>T	GRCh38
NC_000002.11:g.238269807C>T , CM000664.1:g.238269807C>T	GRCh37
NC_000002.10:g.237934546C>T	NCBI36
NG_008676.1:g.58044G>A , LRG_473:g.58044G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.5549G>A	ENSP00000315873.4:p.Gly1850Glu
ENST00000295550.9:c.6167G>A MANE Select	ENSP00000295550.4:p.Gly2056Glu
ENST00000295550.8:c.6167G>A	ENSP00000295550.4:p.Gly2056Glu
ENST00000347401.7:c.4346G>A	ENSP00000315609.4:p.Gly1449Glu
ENST00000353578.8:c.5549G>A	ENSP00000315873.4:p.Gly1850Glu
ENST00000409809.5:c.5549G>A	ENSP00000386844.1:p.Gly1850Glu
ENST00000472056.5:c.4346G>A	ENSP00000418285.1:p.Gly1449Glu
NM_004369.3:c.6167G>A , LRG_473t1:c.6167G>A	NP_004360.2:p.Gly2056Glu
NM_057166.4:c.4346G>A	NP_476507.3:p.Gly1449Glu
NM_057167.3:c.5549G>A	NP_476508.2:p.Gly1850Glu
XM_005246065.1:c.5567G>A	XP_005246122.1:p.Gly1856Glu
XM_005246066.1:c.4946G>A	XP_005246123.1:p.Gly1649Glu
XM_006712253.1:c.5666G>A	XP_006712316.1:p.Gly1889Glu
XM_011510574.1:c.6164G>A	XP_011508876.1:p.Gly2055Glu
XM_011510575.1:c.3761G>A	XP_011508877.1:p.Gly1254Glu
XM_017003304.1:c.3761G>A	XP_016858793.1:p.Gly1254Glu
XM_024452684.1:c.4946G>A	XP_024308452.1:p.Gly1649Glu
NM_004369.4:c.6167G>A MANE Select	NP_004360.2:p.Gly2056Glu
NM_057166.5:c.4346G>A	NP_476507.3:p.Gly1449Glu
NM_057167.4:c.5549G>A	NP_476508.2:p.Gly1850Glu