Canonical Allele Identifier: CA351207018

Gene: COL6A3

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237347812G>C , CM000664.2:g.237347812G>C	GRCh38
NC_000002.11:g.238256455G>C , CM000664.1:g.238256455G>C	GRCh37
NC_000002.10:g.237921194G>C	NCBI36
NG_008676.1:g.71396C>G , LRG_473:g.71396C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.6406C>G	ENSP00000315873.4:p.Arg2136Gly
ENST00000295550.9:c.7024C>G MANE Select	ENSP00000295550.4:p.Arg2342Gly
ENST00000295550.8:c.7024C>G	ENSP00000295550.4:p.Arg2342Gly
ENST00000347401.7:c.5203C>G	ENSP00000315609.4:p.Arg1735Gly
ENST00000353578.8:c.6406C>G	ENSP00000315873.4:p.Arg2136Gly
ENST00000409809.5:c.6406C>G	ENSP00000386844.1:p.Arg2136Gly
ENST00000472056.5:c.5203C>G	ENSP00000418285.1:p.Arg1735Gly
ENST00000491769.1:n.1278C>G
NM_004369.3:c.7024C>G , LRG_473t1:c.7024C>G	NP_004360.2:p.Arg2342Gly
NM_057166.4:c.5203C>G	NP_476507.3:p.Arg1735Gly
NM_057167.3:c.6406C>G	NP_476508.2:p.Arg2136Gly
XM_005246065.1:c.6424C>G	XP_005246122.1:p.Arg2142Gly
XM_005246066.1:c.5803C>G	XP_005246123.1:p.Arg1935Gly
XM_006712253.1:c.6523C>G	XP_006712316.1:p.Arg2175Gly
XM_011510574.1:c.7021C>G	XP_011508876.1:p.Arg2341Gly
XM_011510575.1:c.4618C>G	XP_011508877.1:p.Arg1540Gly
XM_017003304.1:c.4618C>G	XP_016858793.1:p.Arg1540Gly
XM_024452684.1:c.5803C>G	XP_024308452.1:p.Arg1935Gly
NM_004369.4:c.7024C>G MANE Select	NP_004360.2:p.Arg2342Gly
NM_057166.5:c.5203C>G	NP_476507.3:p.Arg1735Gly
NM_057167.4:c.6406C>G	NP_476508.2:p.Arg2136Gly