Canonical Allele Identifier: CA2189002

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 283482
• ClinVar RCV Id: RCV000340797 ; RCV003517167
• dbSNP Id: rs766856187
• ExAC: 2:238280595 C / T
• gnomAD v2: 2-238280595-C-T
• gnomAD v3: 2-237371952-C-T
• gnomAD v4: 2-237371952-C-T
• MyVariant Identifiers: chr2:g.238280595C>T (hg19) ; chr2:g.237371952C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237371952C>T , CM000664.2:g.237371952C>T	GRCh38
NC_000002.11:g.238280595C>T , CM000664.1:g.238280595C>T	GRCh37
NC_000002.10:g.237945334C>T	NCBI36
NG_008676.1:g.47256G>A , LRG_473:g.47256G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.3447G>A	ENSP00000315873.4:p.Pro1149=
ENST00000295550.9:c.4065G>A MANE Select	ENSP00000295550.4:p.Pro1355=
ENST00000295550.8:c.4065G>A	ENSP00000295550.4:p.Pro1355=
ENST00000347401.7:c.2244G>A	ENSP00000315609.4:p.Pro748=
ENST00000353578.8:c.3447G>A	ENSP00000315873.4:p.Pro1149=
ENST00000392003.6:c.2844G>A	ENSP00000375860.2:p.Pro948=
ENST00000392004.7:c.3447G>A	ENSP00000375861.3:p.Pro1149=
ENST00000409809.5:c.3447G>A	ENSP00000386844.1:p.Pro1149=
ENST00000472056.5:c.2244G>A	ENSP00000418285.1:p.Pro748=
NM_004369.3:c.4065G>A , LRG_473t1:c.4065G>A	NP_004360.2:p.Pro1355=
NM_057164.4:c.2844G>A	NP_476505.3:p.Pro948=
NM_057165.4:c.3447G>A	NP_476506.3:p.Pro1149=
NM_057166.4:c.2244G>A	NP_476507.3:p.Pro748=
NM_057167.3:c.3447G>A	NP_476508.2:p.Pro1149=
XM_005246065.1:c.3465G>A	XP_005246122.1:p.Pro1155=
XM_005246066.1:c.2844G>A	XP_005246123.1:p.Pro948=
XM_006712253.1:c.4065G>A	XP_006712316.1:p.Pro1355=
XM_011510574.1:c.4065G>A	XP_011508876.1:p.Pro1355=
XM_011510575.1:c.1659G>A	XP_011508877.1:p.Pro553=
XM_017003304.1:c.1659G>A	XP_016858793.1:p.Pro553=
XM_024452684.1:c.2844G>A	XP_024308452.1:p.Pro948=
NM_004369.4:c.4065G>A MANE Select	NP_004360.2:p.Pro1355=
NM_057164.5:c.2844G>A	NP_476505.3:p.Pro948=
NM_057165.5:c.3447G>A	NP_476506.3:p.Pro1149=
NM_057166.5:c.2244G>A	NP_476507.3:p.Pro748=
NM_057167.4:c.3447G>A	NP_476508.2:p.Pro1149=