Canonical Allele Identifier: CA351186118

Gene: COL6A3

Linked Data

• COSMIC: COSM4920602
• MyVariant Identifiers: chr2:g.238274558C>G (hg19) ; chr2:g.237365915C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237365915C>G , CM000664.2:g.237365915C>G	GRCh38
NC_000002.11:g.238274558C>G , CM000664.1:g.238274558C>G	GRCh37
NC_000002.10:g.237939297C>G	NCBI36
NG_008676.1:g.53293G>C , LRG_473:g.53293G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.5003G>C	ENSP00000315873.4:p.Arg1668Thr
ENST00000295550.9:c.5621G>C MANE Select	ENSP00000295550.4:p.Arg1874Thr
ENST00000295550.8:c.5621G>C	ENSP00000295550.4:p.Arg1874Thr
ENST00000347401.7:c.3800G>C	ENSP00000315609.4:p.Arg1267Thr
ENST00000353578.8:c.5003G>C	ENSP00000315873.4:p.Arg1668Thr
ENST00000409809.5:c.5003G>C	ENSP00000386844.1:p.Arg1668Thr
ENST00000472056.5:c.3800G>C	ENSP00000418285.1:p.Arg1267Thr
NM_004369.3:c.5621G>C , LRG_473t1:c.5621G>C	NP_004360.2:p.Arg1874Thr
NM_057166.4:c.3800G>C	NP_476507.3:p.Arg1267Thr
NM_057167.3:c.5003G>C	NP_476508.2:p.Arg1668Thr
XM_005246065.1:c.5021G>C	XP_005246122.1:p.Arg1674Thr
XM_005246066.1:c.4400G>C	XP_005246123.1:p.Arg1467Thr
XM_006712253.1:c.5120G>C	XP_006712316.1:p.Arg1707Thr
XM_011510574.1:c.5618G>C	XP_011508876.1:p.Arg1873Thr
XM_011510575.1:c.3215G>C	XP_011508877.1:p.Arg1072Thr
XM_017003304.1:c.3215G>C	XP_016858793.1:p.Arg1072Thr
XM_024452684.1:c.4400G>C	XP_024308452.1:p.Arg1467Thr
NM_004369.4:c.5621G>C MANE Select	NP_004360.2:p.Arg1874Thr
NM_057166.5:c.3800G>C	NP_476507.3:p.Arg1267Thr
NM_057167.4:c.5003G>C	NP_476508.2:p.Arg1668Thr