Canonical Allele Identifier: CA351187865

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238275578G>C (hg19) ; chr2:g.237366935G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237366935G>C , CM000664.2:g.237366935G>C	GRCh38
NC_000002.11:g.238275578G>C , CM000664.1:g.238275578G>C	GRCh37
NC_000002.10:g.237940317G>C	NCBI36
NG_008676.1:g.52273C>G , LRG_473:g.52273C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.4634C>G	ENSP00000315873.4:p.Thr1545Arg
ENST00000295550.9:c.5252C>G MANE Select	ENSP00000295550.4:p.Thr1751Arg
ENST00000295550.8:c.5252C>G	ENSP00000295550.4:p.Thr1751Arg
ENST00000347401.7:c.3431C>G	ENSP00000315609.4:p.Thr1144Arg
ENST00000353578.8:c.4634C>G	ENSP00000315873.4:p.Thr1545Arg
ENST00000409809.5:c.4634C>G	ENSP00000386844.1:p.Thr1545Arg
ENST00000472056.5:c.3431C>G	ENSP00000418285.1:p.Thr1144Arg
NM_004369.3:c.5252C>G , LRG_473t1:c.5252C>G	NP_004360.2:p.Thr1751Arg
NM_057166.4:c.3431C>G	NP_476507.3:p.Thr1144Arg
NM_057167.3:c.4634C>G	NP_476508.2:p.Thr1545Arg
XM_005246065.1:c.4652C>G	XP_005246122.1:p.Thr1551Arg
XM_005246066.1:c.4031C>G	XP_005246123.1:p.Thr1344Arg
XM_006712253.1:c.4751C>G	XP_006712316.1:p.Thr1584Arg
XM_011510574.1:c.5249C>G	XP_011508876.1:p.Thr1750Arg
XM_011510575.1:c.2846C>G	XP_011508877.1:p.Thr949Arg
XM_017003304.1:c.2846C>G	XP_016858793.1:p.Thr949Arg
XM_024452684.1:c.4031C>G	XP_024308452.1:p.Thr1344Arg
NM_004369.4:c.5252C>G MANE Select	NP_004360.2:p.Thr1751Arg
NM_057166.5:c.3431C>G	NP_476507.3:p.Thr1144Arg
NM_057167.4:c.4634C>G	NP_476508.2:p.Thr1545Arg