Canonical Allele Identifier: CA2187828

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344696C>T , CM000664.2:g.237344696C>T	GRCh38
NC_000002.11:g.238253339C>T , CM000664.1:g.238253339C>T	GRCh37
NC_000002.10:g.237918078C>T	NCBI36
NG_008676.1:g.74512G>A , LRG_473:g.74512G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.7322G>A MANE Select	NP_004360.2:p.Arg2441Gln
ENST00000295550.9:c.7322G>A MANE Select	ENSP00000295550.4:p.Arg2441Gln
NM_004369.3:c.7322G>A , LRG_473t1:c.7322G>A	NP_004360.2:p.Arg2441Gln
NM_057166.4:c.5501G>A	NP_476507.3:p.Arg1834Gln
NM_057166.5:c.5501G>A	NP_476507.3:p.Arg1834Gln
NM_057167.3:c.6704G>A	NP_476508.2:p.Arg2235Gln
NM_057167.4:c.6704G>A	NP_476508.2:p.Arg2235Gln
ENST00000295550.8:c.7322G>A	ENSP00000295550.4:p.Arg2441Gln
ENST00000347401.7:c.5498G>A	ENSP00000315609.4:p.Arg1833Gln
ENST00000353578.8:c.6704G>A	ENSP00000315873.4:p.Arg2235Gln
ENST00000353578.9:c.6704G>A	ENSP00000315873.4:p.Arg2235Gln
ENST00000409809.5:c.6704G>A	ENSP00000386844.1:p.Arg2235Gln
ENST00000472056.5:c.5501G>A	ENSP00000418285.1:p.Arg1834Gln
ENST00000491769.1:n.1576G>A
XM_005246065.1:c.6722G>A	XP_005246122.1:p.Arg2241Gln
XM_005246066.1:c.6101G>A	XP_005246123.1:p.Arg2034Gln
XM_006712253.1:c.6821G>A	XP_006712316.1:p.Arg2274Gln
XM_011510574.1:c.7319G>A	XP_011508876.1:p.Arg2440Gln
XM_011510575.1:c.4916G>A	XP_011508877.1:p.Arg1639Gln
XM_017003304.1:c.4916G>A	XP_016858793.1:p.Arg1639Gln
XM_024452684.1:c.6101G>A	XP_024308452.1:p.Arg2034Gln