Canonical Allele Identifier: CA202881

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 128823
• ClinVar RCV Id: RCV000178440 ; RCV000397182 ; RCV000542615
• dbSNP Id: rs111859552
• ExAC: 2:238245171 C / T
• gnomAD v2: 2-238245171-C-T
• gnomAD v3: 2-237336528-C-T
• gnomAD v4: 2-237336528-C-T
• MyVariant Identifiers: chr2:g.238245171C>T (hg19) ; chr2:g.237336528C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336528C>T , CM000664.2:g.237336528C>T	GRCh38
NC_000002.11:g.238245171C>T , CM000664.1:g.238245171C>T	GRCh37
NC_000002.10:g.237909910C>T	NCBI36
NG_008676.1:g.82680G>A , LRG_473:g.82680G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1217G>A
ENST00000353578.9:c.7954G>A	ENSP00000315873.4:p.Val2652Ile
ENST00000682957.1:c.699G>A
ENST00000684508.1:n.839G>A
ENST00000295550.9:c.8572G>A MANE Select	ENSP00000295550.4:p.Val2858Ile
ENST00000295550.8:c.8572G>A	ENSP00000295550.4:p.Val2858Ile
ENST00000347401.7:c.6748G>A	ENSP00000315609.4:p.Val2250Ile
ENST00000353578.8:c.7954G>A	ENSP00000315873.4:p.Val2652Ile
ENST00000409809.5:c.7954G>A	ENSP00000386844.1:p.Val2652Ile
ENST00000472056.5:c.6751G>A	ENSP00000418285.1:p.Val2251Ile
ENST00000491769.1:n.5014G>A
NM_004369.3:c.8572G>A , LRG_473t1:c.8572G>A	NP_004360.2:p.Val2858Ile
NM_057166.4:c.6751G>A	NP_476507.3:p.Val2251Ile
NM_057167.3:c.7954G>A	NP_476508.2:p.Val2652Ile
XM_005246065.1:c.7972G>A	XP_005246122.1:p.Val2658Ile
XM_005246066.1:c.7351G>A	XP_005246123.1:p.Val2451Ile
XM_006712253.1:c.8071G>A	XP_006712316.1:p.Val2691Ile
XM_011510574.1:c.8569G>A	XP_011508876.1:p.Val2857Ile
XM_011510575.1:c.6166G>A	XP_011508877.1:p.Val2056Ile
XM_017003304.1:c.6166G>A	XP_016858793.1:p.Val2056Ile
XM_024452684.1:c.7351G>A	XP_024308452.1:p.Val2451Ile
NM_004369.4:c.8572G>A MANE Select	NP_004360.2:p.Val2858Ile
NM_057166.5:c.6751G>A	NP_476507.3:p.Val2251Ile
NM_057167.4:c.7954G>A	NP_476508.2:p.Val2652Ile