Canonical Allele Identifier: CA200142

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.237334727C>T , CM000664.2:g.237334727C>T	GRCh38
NC_000002.11:g.238243370C>T , CM000664.1:g.238243370C>T	GRCh37
NC_000002.10:g.237908109C>T	NCBI36
NG_008676.1:g.84481G>A , LRG_473:g.84481G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1611-1179G>A
ENST00000353578.9:c.8510G>A	ENSP00000315873.4:p.Arg2837His
ENST00000682957.1:c.1255G>A
ENST00000295550.9:c.9128G>A MANE Select	ENSP00000295550.4:p.Arg3043His
ENST00000295550.8:c.9128G>A	ENSP00000295550.4:p.Arg3043His
ENST00000347401.7:c.7304G>A	ENSP00000315609.4:p.Arg2435His
ENST00000353578.8:c.8510G>A	ENSP00000315873.4:p.Arg2837His
ENST00000409809.5:c.8510G>A	ENSP00000386844.1:p.Arg2837His
ENST00000472056.5:c.7307G>A	ENSP00000418285.1:p.Arg2436His
ENST00000491769.1:n.5570G>A
ENST00000493608.1:n.60G>A
NM_004369.3:c.9128G>A , LRG_473t1:c.9128G>A	NP_004360.2:p.Arg3043His
NM_057166.4:c.7307G>A	NP_476507.3:p.Arg2436His
NM_057167.3:c.8510G>A	NP_476508.2:p.Arg2837His
XM_005246065.1:c.8528G>A	XP_005246122.1:p.Arg2843His
XM_005246066.1:c.7907G>A	XP_005246123.1:p.Arg2636His
XM_006712253.1:c.8627G>A	XP_006712316.1:p.Arg2876His
XM_011510574.1:c.9125G>A	XP_011508876.1:p.Arg3042His
XM_011510575.1:c.6722G>A	XP_011508877.1:p.Arg2241His
XM_017003304.1:c.6722G>A	XP_016858793.1:p.Arg2241His
XM_024452684.1:c.7907G>A	XP_024308452.1:p.Arg2636His
NM_004369.4:c.9128G>A MANE Select	NP_004360.2:p.Arg3043His
NM_057166.5:c.7307G>A	NP_476507.3:p.Arg2436His
NM_057167.4:c.8510G>A	NP_476508.2:p.Arg2837His