Canonical Allele Identifier: CA2187486

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 285998
• ClinVar RCV Id: RCV000289268 ; RCV000350575 ; RCV000687574
• dbSNP Id: rs761653490
• ExAC: 2:238245111 T / C
• gnomAD v2: 2-238245111-T-C
• gnomAD v3: 2-237336468-T-C
• gnomAD v4: 2-237336468-T-C
• MyVariant Identifiers: chr2:g.238245111T>C (hg19) ; chr2:g.237336468T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336468T>C , CM000664.2:g.237336468T>C	GRCh38
NC_000002.11:g.238245111T>C , CM000664.1:g.238245111T>C	GRCh37
NC_000002.10:g.237909850T>C	NCBI36
NG_008676.1:g.82740A>G , LRG_473:g.82740A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1277A>G
ENST00000353578.9:c.8014A>G	ENSP00000315873.4:p.Thr2672Ala
ENST00000682957.1:c.759A>G
ENST00000684508.1:n.899A>G
ENST00000295550.9:c.8632A>G MANE Select	ENSP00000295550.4:p.Thr2878Ala
ENST00000295550.8:c.8632A>G	ENSP00000295550.4:p.Thr2878Ala
ENST00000347401.7:c.6808A>G	ENSP00000315609.4:p.Thr2270Ala
ENST00000353578.8:c.8014A>G	ENSP00000315873.4:p.Thr2672Ala
ENST00000409809.5:c.8014A>G	ENSP00000386844.1:p.Thr2672Ala
ENST00000472056.5:c.6811A>G	ENSP00000418285.1:p.Thr2271Ala
ENST00000491769.1:n.5074A>G
NM_004369.3:c.8632A>G , LRG_473t1:c.8632A>G	NP_004360.2:p.Thr2878Ala
NM_057166.4:c.6811A>G	NP_476507.3:p.Thr2271Ala
NM_057167.3:c.8014A>G	NP_476508.2:p.Thr2672Ala
XM_005246065.1:c.8032A>G	XP_005246122.1:p.Thr2678Ala
XM_005246066.1:c.7411A>G	XP_005246123.1:p.Thr2471Ala
XM_006712253.1:c.8131A>G	XP_006712316.1:p.Thr2711Ala
XM_011510574.1:c.8629A>G	XP_011508876.1:p.Thr2877Ala
XM_011510575.1:c.6226A>G	XP_011508877.1:p.Thr2076Ala
XM_017003304.1:c.6226A>G	XP_016858793.1:p.Thr2076Ala
XM_024452684.1:c.7411A>G	XP_024308452.1:p.Thr2471Ala
NM_004369.4:c.8632A>G MANE Select	NP_004360.2:p.Thr2878Ala
NM_057166.5:c.6811A>G	NP_476507.3:p.Thr2271Ala
NM_057167.4:c.8014A>G	NP_476508.2:p.Thr2672Ala