Canonical Allele Identifier: CA2188612

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 476536
• ClinVar RCV Id: RCV000531292 ; RCV003144374 ; RCV003352926 ; RCV004553251
• dbSNP Id: rs368379003
• ExAC: 2:238274522 C / T
• gnomAD v2: 2-238274522-C-T
• gnomAD v3: 2-237365879-C-T
• gnomAD v4: 2-237365879-C-T
• MyVariant Identifiers: chr2:g.238274522C>T (hg19) ; chr2:g.237365879C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237365879C>T , CM000664.2:g.237365879C>T	GRCh38
NC_000002.11:g.238274522C>T , CM000664.1:g.238274522C>T	GRCh37
NC_000002.10:g.237939261C>T	NCBI36
NG_008676.1:g.53329G>A , LRG_473:g.53329G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.5039G>A	ENSP00000315873.4:p.Arg1680His
ENST00000295550.9:c.5657G>A MANE Select	ENSP00000295550.4:p.Arg1886His
ENST00000295550.8:c.5657G>A	ENSP00000295550.4:p.Arg1886His
ENST00000347401.7:c.3836G>A	ENSP00000315609.4:p.Arg1279His
ENST00000353578.8:c.5039G>A	ENSP00000315873.4:p.Arg1680His
ENST00000409809.5:c.5039G>A	ENSP00000386844.1:p.Arg1680His
ENST00000472056.5:c.3836G>A	ENSP00000418285.1:p.Arg1279His
NM_004369.3:c.5657G>A , LRG_473t1:c.5657G>A	NP_004360.2:p.Arg1886His
NM_057166.4:c.3836G>A	NP_476507.3:p.Arg1279His
NM_057167.3:c.5039G>A	NP_476508.2:p.Arg1680His
XM_005246065.1:c.5057G>A	XP_005246122.1:p.Arg1686His
XM_005246066.1:c.4436G>A	XP_005246123.1:p.Arg1479His
XM_006712253.1:c.5156G>A	XP_006712316.1:p.Arg1719His
XM_011510574.1:c.5654G>A	XP_011508876.1:p.Arg1885His
XM_011510575.1:c.3251G>A	XP_011508877.1:p.Arg1084His
XM_017003304.1:c.3251G>A	XP_016858793.1:p.Arg1084His
XM_024452684.1:c.4436G>A	XP_024308452.1:p.Arg1479His
NM_004369.4:c.5657G>A MANE Select	NP_004360.2:p.Arg1886His
NM_057166.5:c.3836G>A	NP_476507.3:p.Arg1279His
NM_057167.4:c.5039G>A	NP_476508.2:p.Arg1680His