Canonical Allele Identifier: CA351188177

Gene: COL6A3

Linked Data

• dbSNP Id: rs1574928420
• MyVariant Identifiers: chr2:g.238243322A>C (hg19) ; chr2:g.237334679A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334679A>C , CM000664.2:g.237334679A>C	GRCh38
NC_000002.11:g.238243322A>C , CM000664.1:g.238243322A>C	GRCh37
NC_000002.10:g.237908061A>C	NCBI36
NG_008676.1:g.84529T>G , LRG_473:g.84529T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1611-1131T>G
ENST00000353578.9:c.8558T>G	ENSP00000315873.4:p.Val2853Gly
ENST00000682957.1:c.1303T>G
ENST00000683348.1:c.44T>G	ENSP00000508058.1:p.Val15Gly
ENST00000295550.9:c.9176T>G MANE Select	ENSP00000295550.4:p.Val3059Gly
ENST00000295550.8:c.9176T>G	ENSP00000295550.4:p.Val3059Gly
ENST00000347401.7:c.7352T>G	ENSP00000315609.4:p.Val2451Gly
ENST00000353578.8:c.8558T>G	ENSP00000315873.4:p.Val2853Gly
ENST00000409809.5:c.8558T>G	ENSP00000386844.1:p.Val2853Gly
ENST00000472056.5:c.7355T>G	ENSP00000418285.1:p.Val2452Gly
ENST00000491769.1:n.5618T>G
ENST00000493608.1:n.108T>G
NM_004369.3:c.9176T>G , LRG_473t1:c.9176T>G	NP_004360.2:p.Val3059Gly
NM_057166.4:c.7355T>G	NP_476507.3:p.Val2452Gly
NM_057167.3:c.8558T>G	NP_476508.2:p.Val2853Gly
XM_005246065.1:c.8576T>G	XP_005246122.1:p.Val2859Gly
XM_005246066.1:c.7955T>G	XP_005246123.1:p.Val2652Gly
XM_006712253.1:c.8675T>G	XP_006712316.1:p.Val2892Gly
XM_011510574.1:c.9173T>G	XP_011508876.1:p.Val3058Gly
XM_011510575.1:c.6770T>G	XP_011508877.1:p.Val2257Gly
XM_017003304.1:c.6770T>G	XP_016858793.1:p.Val2257Gly
XM_024452684.1:c.7955T>G	XP_024308452.1:p.Val2652Gly
NM_004369.4:c.9176T>G MANE Select	NP_004360.2:p.Val3059Gly
NM_057166.5:c.7355T>G	NP_476507.3:p.Val2452Gly
NM_057167.4:c.8558T>G	NP_476508.2:p.Val2853Gly