Canonical Allele Identifier: CA2188571

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 335116
• ClinVar RCV Id: RCV000314267 ; RCV001597100 ; RCV002519952 ; RCV003137960
• dbSNP Id: rs113332380
• ExAC: 2:238274346 C / T
• gnomAD v2: 2-238274346-C-T
• gnomAD v3: 2-237365703-C-T
• gnomAD v4: 2-237365703-C-T
• MyVariant Identifiers: chr2:g.238274346C>T (hg19) ; chr2:g.237365703C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237365703C>T , CM000664.2:g.237365703C>T	GRCh38
NC_000002.11:g.238274346C>T , CM000664.1:g.238274346C>T	GRCh37
NC_000002.10:g.237939085C>T	NCBI36
NG_008676.1:g.53505G>A , LRG_473:g.53505G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.5215G>A	ENSP00000315873.4:p.Val1739Met
ENST00000295550.9:c.5833G>A MANE Select	ENSP00000295550.4:p.Val1945Met
ENST00000295550.8:c.5833G>A	ENSP00000295550.4:p.Val1945Met
ENST00000347401.7:c.4012G>A	ENSP00000315609.4:p.Val1338Met
ENST00000353578.8:c.5215G>A	ENSP00000315873.4:p.Val1739Met
ENST00000409809.5:c.5215G>A	ENSP00000386844.1:p.Val1739Met
ENST00000472056.5:c.4012G>A	ENSP00000418285.1:p.Val1338Met
NM_004369.3:c.5833G>A , LRG_473t1:c.5833G>A	NP_004360.2:p.Val1945Met
NM_057166.4:c.4012G>A	NP_476507.3:p.Val1338Met
NM_057167.3:c.5215G>A	NP_476508.2:p.Val1739Met
XM_005246065.1:c.5233G>A	XP_005246122.1:p.Val1745Met
XM_005246066.1:c.4612G>A	XP_005246123.1:p.Val1538Met
XM_006712253.1:c.5332G>A	XP_006712316.1:p.Val1778Met
XM_011510574.1:c.5830G>A	XP_011508876.1:p.Val1944Met
XM_011510575.1:c.3427G>A	XP_011508877.1:p.Val1143Met
XM_017003304.1:c.3427G>A	XP_016858793.1:p.Val1143Met
XM_024452684.1:c.4612G>A	XP_024308452.1:p.Val1538Met
NM_004369.4:c.5833G>A MANE Select	NP_004360.2:p.Val1945Met
NM_057166.5:c.4012G>A	NP_476507.3:p.Val1338Met
NM_057167.4:c.5215G>A	NP_476508.2:p.Val1739Met