Canonical Allele Identifier: CA351217634

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 488799
• ClinVar RCV Id: RCV000578830 ; RCV002529043
• dbSNP Id: rs1553554298
• MyVariant Identifiers: chr2:g.238270381C>T (hg19) ; chr2:g.237361738C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237361738C>T , CM000664.2:g.237361738C>T	GRCh38
NC_000002.11:g.238270381C>T , CM000664.1:g.238270381C>T	GRCh37
NC_000002.10:g.237935120C>T	NCBI36
NG_008676.1:g.57470G>A , LRG_473:g.57470G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.5538+1G>A	ENSP00000315873.4:n.5538+1G>A
ENST00000295550.9:c.6156+1G>A MANE Select	ENSP00000295550.4:n.6156+1G>A
ENST00000295550.8:c.6156+1G>A	ENSP00000295550.4:n.6156+1G>A
ENST00000347401.7:c.4335+1G>A	ENSP00000315609.4:n.4335+1G>A
ENST00000353578.8:c.5538+1G>A	ENSP00000315873.4:n.5538+1G>A
ENST00000409809.5:c.5538+1G>A	ENSP00000386844.1:n.5538+1G>A
ENST00000472056.5:c.4335+1G>A	ENSP00000418285.1:n.4335+1G>A
NM_004369.3:c.6156+1G>A , LRG_473t1:c.6156+1G>A	NP_004360.2:n.6156+1G>A
NM_057166.4:c.4335+1G>A	NP_476507.3:n.4335+1G>A
NM_057167.3:c.5538+1G>A	NP_476508.2:n.5538+1G>A
XM_005246065.1:c.5556+1G>A	XP_005246122.1:n.5556+1G>A
XM_005246066.1:c.4935+1G>A	XP_005246123.1:n.4935+1G>A
XM_006712253.1:c.5655+1G>A	XP_006712316.1:n.5655+1G>A
XM_011510574.1:c.6153+1G>A	XP_011508876.1:n.6153+1G>A
XM_011510575.1:c.3750+1G>A	XP_011508877.1:n.3750+1G>A
XM_017003304.1:c.3750+1G>A	XP_016858793.1:n.3750+1G>A
XM_024452684.1:c.4935+1G>A	XP_024308452.1:n.4935+1G>A
NM_004369.4:c.6156+1G>A MANE Select	NP_004360.2:n.6156+1G>A
NM_057166.5:c.4335+1G>A	NP_476507.3:n.4335+1G>A
NM_057167.4:c.5538+1G>A	NP_476508.2:n.5538+1G>A