Canonical Allele Identifier: CA351215969

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238267854C>G (hg19) ; chr2:g.237359211C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237359211C>G , CM000664.2:g.237359211C>G	GRCh38
NC_000002.11:g.238267854C>G , CM000664.1:g.238267854C>G	GRCh37
NC_000002.10:g.237932593C>G	NCBI36
NG_008676.1:g.59997G>C , LRG_473:g.59997G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.5731G>C	ENSP00000315873.4:p.Glu1911Gln
ENST00000295550.9:c.6349G>C MANE Select	ENSP00000295550.4:p.Glu2117Gln
ENST00000295550.8:c.6349G>C	ENSP00000295550.4:p.Glu2117Gln
ENST00000347401.7:c.4528G>C	ENSP00000315609.4:p.Glu1510Gln
ENST00000353578.8:c.5731G>C	ENSP00000315873.4:p.Glu1911Gln
ENST00000409809.5:c.5731G>C	ENSP00000386844.1:p.Glu1911Gln
ENST00000472056.5:c.4528G>C	ENSP00000418285.1:p.Glu1510Gln
NM_004369.3:c.6349G>C , LRG_473t1:c.6349G>C	NP_004360.2:p.Glu2117Gln
NM_057166.4:c.4528G>C	NP_476507.3:p.Glu1510Gln
NM_057167.3:c.5731G>C	NP_476508.2:p.Glu1911Gln
XM_005246065.1:c.5749G>C	XP_005246122.1:p.Glu1917Gln
XM_005246066.1:c.5128G>C	XP_005246123.1:p.Glu1710Gln
XM_006712253.1:c.5848G>C	XP_006712316.1:p.Glu1950Gln
XM_011510574.1:c.6346G>C	XP_011508876.1:p.Glu2116Gln
XM_011510575.1:c.3943G>C	XP_011508877.1:p.Glu1315Gln
XM_017003304.1:c.3943G>C	XP_016858793.1:p.Glu1315Gln
XM_024452684.1:c.5128G>C	XP_024308452.1:p.Glu1710Gln
NM_004369.4:c.6349G>C MANE Select	NP_004360.2:p.Glu2117Gln
NM_057166.5:c.4528G>C	NP_476507.3:p.Glu1510Gln
NM_057167.4:c.5731G>C	NP_476508.2:p.Glu1911Gln