Canonical Allele Identifier: CA67853220

Gene: COL6A3

Linked Data

• dbSNP Id: rs944582420
• gnomAD v2: 2-238267859-T-C
• gnomAD v4: 2-237359216-T-C
• MyVariant Identifiers: chr2:g.238267859T>C (hg19) ; chr2:g.237359216T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237359216T>C , CM000664.2:g.237359216T>C	GRCh38
NC_000002.11:g.238267859T>C , CM000664.1:g.238267859T>C	GRCh37
NC_000002.10:g.237932598T>C	NCBI36
NG_008676.1:g.59992A>G , LRG_473:g.59992A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.5726A>G	ENSP00000315873.4:p.Asp1909Gly
ENST00000295550.9:c.6344A>G MANE Select	ENSP00000295550.4:p.Asp2115Gly
ENST00000295550.8:c.6344A>G	ENSP00000295550.4:p.Asp2115Gly
ENST00000347401.7:c.4523A>G	ENSP00000315609.4:p.Asp1508Gly
ENST00000353578.8:c.5726A>G	ENSP00000315873.4:p.Asp1909Gly
ENST00000409809.5:c.5726A>G	ENSP00000386844.1:p.Asp1909Gly
ENST00000472056.5:c.4523A>G	ENSP00000418285.1:p.Asp1508Gly
NM_004369.3:c.6344A>G , LRG_473t1:c.6344A>G	NP_004360.2:p.Asp2115Gly
NM_057166.4:c.4523A>G	NP_476507.3:p.Asp1508Gly
NM_057167.3:c.5726A>G	NP_476508.2:p.Asp1909Gly
XM_005246065.1:c.5744A>G	XP_005246122.1:p.Asp1915Gly
XM_005246066.1:c.5123A>G	XP_005246123.1:p.Asp1708Gly
XM_006712253.1:c.5843A>G	XP_006712316.1:p.Asp1948Gly
XM_011510574.1:c.6341A>G	XP_011508876.1:p.Asp2114Gly
XM_011510575.1:c.3938A>G	XP_011508877.1:p.Asp1313Gly
XM_017003304.1:c.3938A>G	XP_016858793.1:p.Asp1313Gly
XM_024452684.1:c.5123A>G	XP_024308452.1:p.Asp1708Gly
NM_004369.4:c.6344A>G MANE Select	NP_004360.2:p.Asp2115Gly
NM_057166.5:c.4523A>G	NP_476507.3:p.Asp1508Gly
NM_057167.4:c.5726A>G	NP_476508.2:p.Asp1909Gly