Canonical Allele Identifier: CA351191824

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 501551
• ClinVar RCV Id: RCV000592234
• dbSNP Id: rs1553544853
• MyVariant Identifiers: chr2:g.238245045T>C (hg19) ; chr2:g.237336402T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336402T>C , CM000664.2:g.237336402T>C	GRCh38
NC_000002.11:g.238245045T>C , CM000664.1:g.238245045T>C	GRCh37
NC_000002.10:g.237909784T>C	NCBI36
NG_008676.1:g.82806A>G , LRG_473:g.82806A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1343A>G
ENST00000353578.9:c.8080A>G	ENSP00000315873.4:p.Ile2694Val
ENST00000682957.1:c.825A>G
ENST00000684508.1:n.965A>G
ENST00000295550.9:c.8698A>G MANE Select	ENSP00000295550.4:p.Ile2900Val
ENST00000295550.8:c.8698A>G	ENSP00000295550.4:p.Ile2900Val
ENST00000347401.7:c.6874A>G	ENSP00000315609.4:p.Ile2292Val
ENST00000353578.8:c.8080A>G	ENSP00000315873.4:p.Ile2694Val
ENST00000409809.5:c.8080A>G	ENSP00000386844.1:p.Ile2694Val
ENST00000472056.5:c.6877A>G	ENSP00000418285.1:p.Ile2293Val
ENST00000491769.1:n.5140A>G
NM_004369.3:c.8698A>G , LRG_473t1:c.8698A>G	NP_004360.2:p.Ile2900Val
NM_057166.4:c.6877A>G	NP_476507.3:p.Ile2293Val
NM_057167.3:c.8080A>G	NP_476508.2:p.Ile2694Val
XM_005246065.1:c.8098A>G	XP_005246122.1:p.Ile2700Val
XM_005246066.1:c.7477A>G	XP_005246123.1:p.Ile2493Val
XM_006712253.1:c.8197A>G	XP_006712316.1:p.Ile2733Val
XM_011510574.1:c.8695A>G	XP_011508876.1:p.Ile2899Val
XM_011510575.1:c.6292A>G	XP_011508877.1:p.Ile2098Val
XM_017003304.1:c.6292A>G	XP_016858793.1:p.Ile2098Val
XM_024452684.1:c.7477A>G	XP_024308452.1:p.Ile2493Val
NM_004369.4:c.8698A>G MANE Select	NP_004360.2:p.Ile2900Val
NM_057166.5:c.6877A>G	NP_476507.3:p.Ile2293Val
NM_057167.4:c.8080A>G	NP_476508.2:p.Ile2694Val