Canonical Allele Identifier: CA351188167

Gene: COL6A3

Linked Data

• dbSNP Id: rs1471773022
• gnomAD v2: 2-238243319-C-T
• gnomAD v4: 2-237334676-C-T
• MyVariant Identifiers: chr2:g.238243319C>T (hg19) ; chr2:g.237334676C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334676C>T , CM000664.2:g.237334676C>T	GRCh38
NC_000002.11:g.238243319C>T , CM000664.1:g.238243319C>T	GRCh37
NC_000002.10:g.237908058C>T	NCBI36
NG_008676.1:g.84532G>A , LRG_473:g.84532G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1611-1128G>A
ENST00000353578.9:c.8561G>A	ENSP00000315873.4:p.Cys2854Tyr
ENST00000682957.1:c.1306G>A
ENST00000683348.1:c.47G>A	ENSP00000508058.1:p.Cys16Tyr
ENST00000295550.9:c.9179G>A MANE Select	ENSP00000295550.4:p.Cys3060Tyr
ENST00000295550.8:c.9179G>A	ENSP00000295550.4:p.Cys3060Tyr
ENST00000347401.7:c.7355G>A	ENSP00000315609.4:p.Cys2452Tyr
ENST00000353578.8:c.8561G>A	ENSP00000315873.4:p.Cys2854Tyr
ENST00000409809.5:c.8561G>A	ENSP00000386844.1:p.Cys2854Tyr
ENST00000472056.5:c.7358G>A	ENSP00000418285.1:p.Cys2453Tyr
ENST00000491769.1:n.5621G>A
ENST00000493608.1:n.111G>A
NM_004369.3:c.9179G>A , LRG_473t1:c.9179G>A	NP_004360.2:p.Cys3060Tyr
NM_057166.4:c.7358G>A	NP_476507.3:p.Cys2453Tyr
NM_057167.3:c.8561G>A	NP_476508.2:p.Cys2854Tyr
XM_005246065.1:c.8579G>A	XP_005246122.1:p.Cys2860Tyr
XM_005246066.1:c.7958G>A	XP_005246123.1:p.Cys2653Tyr
XM_006712253.1:c.8678G>A	XP_006712316.1:p.Cys2893Tyr
XM_011510574.1:c.9176G>A	XP_011508876.1:p.Cys3059Tyr
XM_011510575.1:c.6773G>A	XP_011508877.1:p.Cys2258Tyr
XM_017003304.1:c.6773G>A	XP_016858793.1:p.Cys2258Tyr
XM_024452684.1:c.7958G>A	XP_024308452.1:p.Cys2653Tyr
NM_004369.4:c.9179G>A MANE Select	NP_004360.2:p.Cys3060Tyr
NM_057166.5:c.7358G>A	NP_476507.3:p.Cys2453Tyr
NM_057167.4:c.8561G>A	NP_476508.2:p.Cys2854Tyr