Canonical Allele Identifier: CA351188186

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238243323C>T (hg19) ; chr2:g.237334680C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334680C>T , CM000664.2:g.237334680C>T	GRCh38
NC_000002.11:g.238243323C>T , CM000664.1:g.238243323C>T	GRCh37
NC_000002.10:g.237908062C>T	NCBI36
NG_008676.1:g.84528G>A , LRG_473:g.84528G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1611-1132G>A
ENST00000353578.9:c.8557G>A	ENSP00000315873.4:p.Val2853Ile
ENST00000682957.1:c.1302G>A
ENST00000683348.1:c.43G>A	ENSP00000508058.1:p.Val15Ile
ENST00000295550.9:c.9175G>A MANE Select	ENSP00000295550.4:p.Val3059Ile
ENST00000295550.8:c.9175G>A	ENSP00000295550.4:p.Val3059Ile
ENST00000347401.7:c.7351G>A	ENSP00000315609.4:p.Val2451Ile
ENST00000353578.8:c.8557G>A	ENSP00000315873.4:p.Val2853Ile
ENST00000409809.5:c.8557G>A	ENSP00000386844.1:p.Val2853Ile
ENST00000472056.5:c.7354G>A	ENSP00000418285.1:p.Val2452Ile
ENST00000491769.1:n.5617G>A
ENST00000493608.1:n.107G>A
NM_004369.3:c.9175G>A , LRG_473t1:c.9175G>A	NP_004360.2:p.Val3059Ile
NM_057166.4:c.7354G>A	NP_476507.3:p.Val2452Ile
NM_057167.3:c.8557G>A	NP_476508.2:p.Val2853Ile
XM_005246065.1:c.8575G>A	XP_005246122.1:p.Val2859Ile
XM_005246066.1:c.7954G>A	XP_005246123.1:p.Val2652Ile
XM_006712253.1:c.8674G>A	XP_006712316.1:p.Val2892Ile
XM_011510574.1:c.9172G>A	XP_011508876.1:p.Val3058Ile
XM_011510575.1:c.6769G>A	XP_011508877.1:p.Val2257Ile
XM_017003304.1:c.6769G>A	XP_016858793.1:p.Val2257Ile
XM_024452684.1:c.7954G>A	XP_024308452.1:p.Val2652Ile
NM_004369.4:c.9175G>A MANE Select	NP_004360.2:p.Val3059Ile
NM_057166.5:c.7354G>A	NP_476507.3:p.Val2452Ile
NM_057167.4:c.8557G>A	NP_476508.2:p.Val2853Ile