Canonical Allele Identifier: CA245531

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 197416
• ClinVar RCV Id: RCV000178441 ; RCV000286598 ; RCV002516774 ; RCV000557223
• dbSNP Id: rs200626456
• ExAC: 2:238244924 G / A
• gnomAD v2: 2-238244924-G-A
• gnomAD v3: 2-237336281-G-A
• gnomAD v4: 2-237336281-G-A
• MyVariant Identifiers: chr2:g.238244924G>A (hg19) ; chr2:g.237336281G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336281G>A , CM000664.2:g.237336281G>A	GRCh38
NC_000002.11:g.238244924G>A , CM000664.1:g.238244924G>A	GRCh37
NC_000002.10:g.237909663G>A	NCBI36
NG_008676.1:g.82927C>T , LRG_473:g.82927C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1464C>T
ENST00000353578.9:c.8201C>T	ENSP00000315873.4:p.Thr2734Met
ENST00000682957.1:c.946C>T
ENST00000684508.1:n.1086C>T
ENST00000295550.9:c.8819C>T MANE Select	ENSP00000295550.4:p.Thr2940Met
ENST00000295550.8:c.8819C>T	ENSP00000295550.4:p.Thr2940Met
ENST00000347401.7:c.6995C>T	ENSP00000315609.4:p.Thr2332Met
ENST00000353578.8:c.8201C>T	ENSP00000315873.4:p.Thr2734Met
ENST00000409809.5:c.8201C>T	ENSP00000386844.1:p.Thr2734Met
ENST00000472056.5:c.6998C>T	ENSP00000418285.1:p.Thr2333Met
ENST00000491769.1:n.5261C>T
NM_004369.3:c.8819C>T , LRG_473t1:c.8819C>T	NP_004360.2:p.Thr2940Met
NM_057166.4:c.6998C>T	NP_476507.3:p.Thr2333Met
NM_057167.3:c.8201C>T	NP_476508.2:p.Thr2734Met
XM_005246065.1:c.8219C>T	XP_005246122.1:p.Thr2740Met
XM_005246066.1:c.7598C>T	XP_005246123.1:p.Thr2533Met
XM_006712253.1:c.8318C>T	XP_006712316.1:p.Thr2773Met
XM_011510574.1:c.8816C>T	XP_011508876.1:p.Thr2939Met
XM_011510575.1:c.6413C>T	XP_011508877.1:p.Thr2138Met
XM_017003304.1:c.6413C>T	XP_016858793.1:p.Thr2138Met
XM_024452684.1:c.7598C>T	XP_024308452.1:p.Thr2533Met
NM_004369.4:c.8819C>T MANE Select	NP_004360.2:p.Thr2940Met
NM_057166.5:c.6998C>T	NP_476507.3:p.Thr2333Met
NM_057167.4:c.8201C>T	NP_476508.2:p.Thr2734Met