Canonical Allele Identifier: CA351187797

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237366902-A-C
• MyVariant Identifiers: chr2:g.238275545A>C (hg19) ; chr2:g.237366902A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237366902A>C , CM000664.2:g.237366902A>C	GRCh38
NC_000002.11:g.238275545A>C , CM000664.1:g.238275545A>C	GRCh37
NC_000002.10:g.237940284A>C	NCBI36
NG_008676.1:g.52306T>G , LRG_473:g.52306T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.4667T>G	ENSP00000315873.4:p.Val1556Gly
ENST00000295550.9:c.5285T>G MANE Select	ENSP00000295550.4:p.Val1762Gly
ENST00000295550.8:c.5285T>G	ENSP00000295550.4:p.Val1762Gly
ENST00000347401.7:c.3464T>G	ENSP00000315609.4:p.Val1155Gly
ENST00000353578.8:c.4667T>G	ENSP00000315873.4:p.Val1556Gly
ENST00000409809.5:c.4667T>G	ENSP00000386844.1:p.Val1556Gly
ENST00000472056.5:c.3464T>G	ENSP00000418285.1:p.Val1155Gly
NM_004369.3:c.5285T>G , LRG_473t1:c.5285T>G	NP_004360.2:p.Val1762Gly
NM_057166.4:c.3464T>G	NP_476507.3:p.Val1155Gly
NM_057167.3:c.4667T>G	NP_476508.2:p.Val1556Gly
XM_005246065.1:c.4685T>G	XP_005246122.1:p.Val1562Gly
XM_005246066.1:c.4064T>G	XP_005246123.1:p.Val1355Gly
XM_006712253.1:c.4784T>G	XP_006712316.1:p.Val1595Gly
XM_011510574.1:c.5282T>G	XP_011508876.1:p.Val1761Gly
XM_011510575.1:c.2879T>G	XP_011508877.1:p.Val960Gly
XM_017003304.1:c.2879T>G	XP_016858793.1:p.Val960Gly
XM_024452684.1:c.4064T>G	XP_024308452.1:p.Val1355Gly
NM_004369.4:c.5285T>G MANE Select	NP_004360.2:p.Val1762Gly
NM_057166.5:c.3464T>G	NP_476507.3:p.Val1155Gly
NM_057167.4:c.4667T>G	NP_476508.2:p.Val1556Gly