Canonical Allele Identifier: CA351185278

Gene: COL6A3

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237324800C>G , CM000664.2:g.237324800C>G	GRCh38
NC_000002.11:g.238233443C>G , CM000664.1:g.238233443C>G	GRCh37
NC_000002.10:g.237898182C>G	NCBI36
NG_008676.1:g.94408G>C , LRG_473:g.94408G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1889G>C
ENST00000353578.9:c.8890G>C	ENSP00000315873.4:p.Gly2964Arg
ENST00000682957.1:c.1635G>C
ENST00000683348.1:c.374G>C	ENSP00000508058.1:n.374G>C
ENST00000295550.9:c.9508G>C MANE Select	ENSP00000295550.4:p.Gly3170Arg
ENST00000295550.8:c.9508G>C	ENSP00000295550.4:p.Gly3170Arg
ENST00000347401.7:c.7684G>C	ENSP00000315609.4:p.Gly2562Arg
ENST00000353578.8:c.8890G>C	ENSP00000315873.4:p.Gly2964Arg
ENST00000409809.5:c.8890G>C	ENSP00000386844.1:p.Gly2964Arg
ENST00000472056.5:c.7687G>C	ENSP00000418285.1:p.Gly2563Arg
ENST00000473258.1:n.4636G>C
ENST00000491769.1:n.5950G>C
NM_004369.3:c.9508G>C , LRG_473t1:c.9508G>C	NP_004360.2:p.Gly3170Arg
NM_057166.4:c.7687G>C	NP_476507.3:p.Gly2563Arg
NM_057167.3:c.8890G>C	NP_476508.2:p.Gly2964Arg
XM_005246065.1:c.8908G>C	XP_005246122.1:p.Gly2970Arg
XM_005246066.1:c.8287G>C	XP_005246123.1:p.Gly2763Arg
XM_006712253.1:c.9007G>C	XP_006712316.1:p.Gly3003Arg
XM_011510574.1:c.9505G>C	XP_011508876.1:p.Gly3169Arg
XM_011510575.1:c.7102G>C	XP_011508877.1:p.Gly2368Arg
XM_017003304.1:c.7102G>C	XP_016858793.1:p.Gly2368Arg
XM_024452684.1:c.8287G>C	XP_024308452.1:p.Gly2763Arg
NM_004369.4:c.9508G>C MANE Select	NP_004360.2:p.Gly3170Arg
NM_057166.5:c.7687G>C	NP_476507.3:p.Gly2563Arg
NM_057167.4:c.8890G>C	NP_476508.2:p.Gly2964Arg