Canonical Allele Identifier: CA2188423

Gene: COL6A3

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237361149C>T , CM000664.2:g.237361149C>T	GRCh38
NC_000002.11:g.238269792C>T , CM000664.1:g.238269792C>T	GRCh37
NC_000002.10:g.237934531C>T	NCBI36
NG_008676.1:g.58059G>A , LRG_473:g.58059G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.5564G>A	ENSP00000315873.4:p.Arg1855Gln
ENST00000295550.9:c.6182G>A MANE Select	ENSP00000295550.4:p.Arg2061Gln
ENST00000295550.8:c.6182G>A	ENSP00000295550.4:p.Arg2061Gln
ENST00000347401.7:c.4361G>A	ENSP00000315609.4:p.Arg1454Gln
ENST00000353578.8:c.5564G>A	ENSP00000315873.4:p.Arg1855Gln
ENST00000409809.5:c.5564G>A	ENSP00000386844.1:p.Arg1855Gln
ENST00000472056.5:c.4361G>A	ENSP00000418285.1:p.Arg1454Gln
NM_004369.3:c.6182G>A , LRG_473t1:c.6182G>A	NP_004360.2:p.Arg2061Gln
NM_057166.4:c.4361G>A	NP_476507.3:p.Arg1454Gln
NM_057167.3:c.5564G>A	NP_476508.2:p.Arg1855Gln
XM_005246065.1:c.5582G>A	XP_005246122.1:p.Arg1861Gln
XM_005246066.1:c.4961G>A	XP_005246123.1:p.Arg1654Gln
XM_006712253.1:c.5681G>A	XP_006712316.1:p.Arg1894Gln
XM_011510574.1:c.6179G>A	XP_011508876.1:p.Arg2060Gln
XM_011510575.1:c.3776G>A	XP_011508877.1:p.Arg1259Gln
XM_017003304.1:c.3776G>A	XP_016858793.1:p.Arg1259Gln
XM_024452684.1:c.4961G>A	XP_024308452.1:p.Arg1654Gln
NM_004369.4:c.6182G>A MANE Select	NP_004360.2:p.Arg2061Gln
NM_057166.5:c.4361G>A	NP_476507.3:p.Arg1454Gln
NM_057167.4:c.5564G>A	NP_476508.2:p.Arg1855Gln