Canonical Allele Identifier: CA2187750

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 1530971
• ClinVar RCV Id: RCV002092184
• dbSNP Id: rs746169209
• ExAC: 2:238252977 C / T
• gnomAD v2: 2-238252977-C-T
• gnomAD v3: 2-237344334-C-T
• gnomAD v4: 2-237344334-C-T
• COSMIC: COSN20074285
• MyVariant Identifiers: chr2:g.238252977C>T (hg19) ; chr2:g.237344334C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344334C>T , CM000664.2:g.237344334C>T	GRCh38
NC_000002.11:g.238252977C>T , CM000664.1:g.238252977C>T	GRCh37
NC_000002.10:g.237917716C>T	NCBI36
NG_008676.1:g.74874G>A , LRG_473:g.74874G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.313+16G>A
ENST00000353578.9:c.7050+16G>A	ENSP00000315873.4:n.7050+16G>A
ENST00000295550.9:c.7668+16G>A MANE Select	ENSP00000295550.4:n.7668+16G>A
ENST00000295550.8:c.7668+16G>A	ENSP00000295550.4:n.7668+16G>A
ENST00000347401.7:c.5844+16G>A	ENSP00000315609.4:n.5844+16G>A
ENST00000353578.8:c.7050+16G>A	ENSP00000315873.4:n.7050+16G>A
ENST00000409809.5:c.7050+16G>A	ENSP00000386844.1:n.7050+16G>A
ENST00000472056.5:c.5847+16G>A	ENSP00000418285.1:n.5847+16G>A
ENST00000491769.1:n.1938G>A
NM_004369.3:c.7668+16G>A , LRG_473t1:c.7668+16G>A	NP_004360.2:n.7668+16G>A
NM_057166.4:c.5847+16G>A	NP_476507.3:n.5847+16G>A
NM_057167.3:c.7050+16G>A	NP_476508.2:n.7050+16G>A
XM_005246065.1:c.7068+16G>A	XP_005246122.1:n.7068+16G>A
XM_005246066.1:c.6447+16G>A	XP_005246123.1:n.6447+16G>A
XM_006712253.1:c.7167+16G>A	XP_006712316.1:n.7167+16G>A
XM_011510574.1:c.7665+16G>A	XP_011508876.1:n.7665+16G>A
XM_011510575.1:c.5262+16G>A	XP_011508877.1:n.5262+16G>A
XM_017003304.1:c.5262+16G>A	XP_016858793.1:n.5262+16G>A
XM_024452684.1:c.6447+16G>A	XP_024308452.1:n.6447+16G>A
NM_004369.4:c.7668+16G>A MANE Select	NP_004360.2:n.7668+16G>A
NM_057166.5:c.5847+16G>A	NP_476507.3:n.5847+16G>A
NM_057167.4:c.7050+16G>A	NP_476508.2:n.7050+16G>A