Canonical Allele Identifier: CA67830694

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 1150968
• ClinVar RCV Id: RCV001491724
• dbSNP Id: rs551264358
• MyVariant Identifiers: chr2:g.238245073T>C (hg19) ; chr2:g.237336430T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336430T>C , CM000664.2:g.237336430T>C	GRCh38
NC_000002.11:g.238245073T>C , CM000664.1:g.238245073T>C	GRCh37
NC_000002.10:g.237909812T>C	NCBI36
NG_008676.1:g.82778A>G , LRG_473:g.82778A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1315A>G
ENST00000353578.9:c.8052A>G	ENSP00000315873.4:p.Val2684=
ENST00000682957.1:c.797A>G
ENST00000684508.1:n.937A>G
ENST00000295550.9:c.8670A>G MANE Select	ENSP00000295550.4:p.Val2890=
ENST00000295550.8:c.8670A>G	ENSP00000295550.4:p.Val2890=
ENST00000347401.7:c.6846A>G	ENSP00000315609.4:p.Val2282=
ENST00000353578.8:c.8052A>G	ENSP00000315873.4:p.Val2684=
ENST00000409809.5:c.8052A>G	ENSP00000386844.1:p.Val2684=
ENST00000472056.5:c.6849A>G	ENSP00000418285.1:p.Val2283=
ENST00000491769.1:n.5112A>G
NM_004369.3:c.8670A>G , LRG_473t1:c.8670A>G	NP_004360.2:p.Val2890=
NM_057166.4:c.6849A>G	NP_476507.3:p.Val2283=
NM_057167.3:c.8052A>G	NP_476508.2:p.Val2684=
XM_005246065.1:c.8070A>G	XP_005246122.1:p.Val2690=
XM_005246066.1:c.7449A>G	XP_005246123.1:p.Val2483=
XM_006712253.1:c.8169A>G	XP_006712316.1:p.Val2723=
XM_011510574.1:c.8667A>G	XP_011508876.1:p.Val2889=
XM_011510575.1:c.6264A>G	XP_011508877.1:p.Val2088=
XM_017003304.1:c.6264A>G	XP_016858793.1:p.Val2088=
XM_024452684.1:c.7449A>G	XP_024308452.1:p.Val2483=
NM_004369.4:c.8670A>G MANE Select	NP_004360.2:p.Val2890=
NM_057166.5:c.6849A>G	NP_476507.3:p.Val2283=
NM_057167.4:c.8052A>G	NP_476508.2:p.Val2684=