Canonical Allele Identifier: CA351216315

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237359382-G-C
• MyVariant Identifiers: chr2:g.238268025G>C (hg19) ; chr2:g.237359382G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237359382G>C , CM000664.2:g.237359382G>C	GRCh38
NC_000002.11:g.238268025G>C , CM000664.1:g.238268025G>C	GRCh37
NC_000002.10:g.237932764G>C	NCBI36
NG_008676.1:g.59826C>G , LRG_473:g.59826C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000353578.9:c.5671C>G	ENSP00000315873.4:p.Arg1891Gly
ENST00000295550.9:c.6289C>G MANE Select	ENSP00000295550.4:p.Arg2097Gly
ENST00000295550.8:c.6289C>G	ENSP00000295550.4:p.Arg2097Gly
ENST00000347401.7:c.4468C>G	ENSP00000315609.4:p.Arg1490Gly
ENST00000353578.8:c.5671C>G	ENSP00000315873.4:p.Arg1891Gly
ENST00000409809.5:c.5671C>G	ENSP00000386844.1:p.Arg1891Gly
ENST00000472056.5:c.4468C>G	ENSP00000418285.1:p.Arg1490Gly
NM_004369.3:c.6289C>G , LRG_473t1:c.6289C>G	NP_004360.2:p.Arg2097Gly
NM_057166.4:c.4468C>G	NP_476507.3:p.Arg1490Gly
NM_057167.3:c.5671C>G	NP_476508.2:p.Arg1891Gly
XM_005246065.1:c.5689C>G	XP_005246122.1:p.Arg1897Gly
XM_005246066.1:c.5068C>G	XP_005246123.1:p.Arg1690Gly
XM_006712253.1:c.5788C>G	XP_006712316.1:p.Arg1930Gly
XM_011510574.1:c.6286C>G	XP_011508876.1:p.Arg2096Gly
XM_011510575.1:c.3883C>G	XP_011508877.1:p.Arg1295Gly
XM_017003304.1:c.3883C>G	XP_016858793.1:p.Arg1295Gly
XM_024452684.1:c.5068C>G	XP_024308452.1:p.Arg1690Gly
NM_004369.4:c.6289C>G MANE Select	NP_004360.2:p.Arg2097Gly
NM_057166.5:c.4468C>G	NP_476507.3:p.Arg1490Gly
NM_057167.4:c.5671C>G	NP_476508.2:p.Arg1891Gly