Canonical Allele Identifier: CA10606112

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 288503
• ClinVar RCV Id: RCV000337392 ; RCV000760148 ; RCV002518040
• dbSNP Id: rs886043919
• MyVariant Identifiers: chr2:g.238268004C>A (hg19) ; chr2:g.237359361C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237359361C>A , CM000664.2:g.237359361C>A	GRCh38
NC_000002.11:g.238268004C>A , CM000664.1:g.238268004C>A	GRCh37
NC_000002.10:g.237932743C>A	NCBI36
NG_008676.1:g.59847G>T , LRG_473:g.59847G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.5691+1G>T	ENSP00000315873.4:n.5691+1G>T
ENST00000295550.9:c.6309+1G>T MANE Select	ENSP00000295550.4:n.6309+1G>T
ENST00000295550.8:c.6309+1G>T	ENSP00000295550.4:n.6309+1G>T
ENST00000347401.7:c.4488+1G>T	ENSP00000315609.4:n.4488+1G>T
ENST00000353578.8:c.5691+1G>T	ENSP00000315873.4:n.5691+1G>T
ENST00000409809.5:c.5691+1G>T	ENSP00000386844.1:n.5691+1G>T
ENST00000472056.5:c.4488+1G>T	ENSP00000418285.1:n.4488+1G>T
NM_004369.3:c.6309+1G>T , LRG_473t1:c.6309+1G>T	NP_004360.2:n.6309+1G>T
NM_057166.4:c.4488+1G>T	NP_476507.3:n.4488+1G>T
NM_057167.3:c.5691+1G>T	NP_476508.2:n.5691+1G>T
XM_005246065.1:c.5709+1G>T	XP_005246122.1:n.5709+1G>T
XM_005246066.1:c.5088+1G>T	XP_005246123.1:n.5088+1G>T
XM_006712253.1:c.5808+1G>T	XP_006712316.1:n.5808+1G>T
XM_011510574.1:c.6306+1G>T	XP_011508876.1:n.6306+1G>T
XM_011510575.1:c.3903+1G>T	XP_011508877.1:n.3903+1G>T
XM_017003304.1:c.3903+1G>T	XP_016858793.1:n.3903+1G>T
XM_024452684.1:c.5088+1G>T	XP_024308452.1:n.5088+1G>T
NM_004369.4:c.6309+1G>T MANE Select	NP_004360.2:n.6309+1G>T
NM_057166.5:c.4488+1G>T	NP_476507.3:n.4488+1G>T
NM_057167.4:c.5691+1G>T	NP_476508.2:n.5691+1G>T