Canonical Allele Identifier: CA351216671

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 476546
• ClinVar RCV Id: RCV000557822 ; RCV000598340
• dbSNP Id: rs1553553646
• MyVariant Identifiers: chr2:g.238268783C>T (hg19) ; chr2:g.237360140C>T (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237360140C>T , CM000664.2:g.237360140C>T	GRCh38
NC_000002.11:g.238268783C>T , CM000664.1:g.238268783C>T	GRCh37
NC_000002.10:g.237933522C>T	NCBI36
NG_008676.1:g.59068G>A , LRG_473:g.59068G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.5612G>A	ENSP00000315873.4:p.Gly1871Asp
ENST00000295550.9:c.6230G>A MANE Select	ENSP00000295550.4:p.Gly2077Asp
ENST00000295550.8:c.6230G>A	ENSP00000295550.4:p.Gly2077Asp
ENST00000347401.7:c.4409G>A	ENSP00000315609.4:p.Gly1470Asp
ENST00000353578.8:c.5612G>A	ENSP00000315873.4:p.Gly1871Asp
ENST00000409809.5:c.5612G>A	ENSP00000386844.1:p.Gly1871Asp
ENST00000472056.5:c.4409G>A	ENSP00000418285.1:p.Gly1470Asp
NM_004369.3:c.6230G>A , LRG_473t1:c.6230G>A	NP_004360.2:p.Gly2077Asp
NM_057166.4:c.4409G>A	NP_476507.3:p.Gly1470Asp
NM_057167.3:c.5612G>A	NP_476508.2:p.Gly1871Asp
XM_005246065.1:c.5630G>A	XP_005246122.1:p.Gly1877Asp
XM_005246066.1:c.5009G>A	XP_005246123.1:p.Gly1670Asp
XM_006712253.1:c.5729G>A	XP_006712316.1:p.Gly1910Asp
XM_011510574.1:c.6227G>A	XP_011508876.1:p.Gly2076Asp
XM_011510575.1:c.3824G>A	XP_011508877.1:p.Gly1275Asp
XM_017003304.1:c.3824G>A	XP_016858793.1:p.Gly1275Asp
XM_024452684.1:c.5009G>A	XP_024308452.1:p.Gly1670Asp
NM_004369.4:c.6230G>A MANE Select	NP_004360.2:p.Gly2077Asp
NM_057166.5:c.4409G>A	NP_476507.3:p.Gly1470Asp
NM_057167.4:c.5612G>A	NP_476508.2:p.Gly1871Asp