Canonical Allele Identifier: CA2188590

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 476537
• ClinVar RCV Id: RCV000543905 ; RCV000593713 ; RCV001329871 ; RCV002526737
• dbSNP Id: rs113251155
• ExAC: 2:238274445 C / T
• gnomAD v2: 2-238274445-C-T
• gnomAD v3: 2-237365802-C-T
• gnomAD v4: 2-237365802-C-T
• COSMIC: COSM720105
• MyVariant Identifiers: chr2:g.238274445C>T (hg19) ; chr2:g.237365802C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237365802C>T , CM000664.2:g.237365802C>T	GRCh38
NC_000002.11:g.238274445C>T , CM000664.1:g.238274445C>T	GRCh37
NC_000002.10:g.237939184C>T	NCBI36
NG_008676.1:g.53406G>A , LRG_473:g.53406G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.5116G>A	ENSP00000315873.4:p.Glu1706Lys
ENST00000295550.9:c.5734G>A MANE Select	ENSP00000295550.4:p.Glu1912Lys
ENST00000295550.8:c.5734G>A	ENSP00000295550.4:p.Glu1912Lys
ENST00000347401.7:c.3913G>A	ENSP00000315609.4:p.Glu1305Lys
ENST00000353578.8:c.5116G>A	ENSP00000315873.4:p.Glu1706Lys
ENST00000409809.5:c.5116G>A	ENSP00000386844.1:p.Glu1706Lys
ENST00000472056.5:c.3913G>A	ENSP00000418285.1:p.Glu1305Lys
NM_004369.3:c.5734G>A , LRG_473t1:c.5734G>A	NP_004360.2:p.Glu1912Lys
NM_057166.4:c.3913G>A	NP_476507.3:p.Glu1305Lys
NM_057167.3:c.5116G>A	NP_476508.2:p.Glu1706Lys
XM_005246065.1:c.5134G>A	XP_005246122.1:p.Glu1712Lys
XM_005246066.1:c.4513G>A	XP_005246123.1:p.Glu1505Lys
XM_006712253.1:c.5233G>A	XP_006712316.1:p.Glu1745Lys
XM_011510574.1:c.5731G>A	XP_011508876.1:p.Glu1911Lys
XM_011510575.1:c.3328G>A	XP_011508877.1:p.Glu1110Lys
XM_017003304.1:c.3328G>A	XP_016858793.1:p.Glu1110Lys
XM_024452684.1:c.4513G>A	XP_024308452.1:p.Glu1505Lys
NM_004369.4:c.5734G>A MANE Select	NP_004360.2:p.Glu1912Lys
NM_057166.5:c.3913G>A	NP_476507.3:p.Glu1305Lys
NM_057167.4:c.5116G>A	NP_476508.2:p.Glu1706Lys