Canonical Allele Identifier: CA2187469

Gene: COL6A3

Linked Data

• dbSNP Id: rs567910448
• ExAC: 2:238245074 A / G
• gnomAD v2: 2-238245074-A-G
• gnomAD v3: 2-237336431-A-G
• gnomAD v4: 2-237336431-A-G
• MyVariant Identifiers: chr2:g.238245074A>G (hg19) ; chr2:g.237336431A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336431A>G , CM000664.2:g.237336431A>G	GRCh38
NC_000002.11:g.238245074A>G , CM000664.1:g.238245074A>G	GRCh37
NC_000002.10:g.237909813A>G	NCBI36
NG_008676.1:g.82777T>C , LRG_473:g.82777T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1314T>C
ENST00000353578.9:c.8051T>C	ENSP00000315873.4:p.Val2684Ala
ENST00000682957.1:c.796T>C
ENST00000684508.1:n.936T>C
ENST00000295550.9:c.8669T>C MANE Select	ENSP00000295550.4:p.Val2890Ala
ENST00000295550.8:c.8669T>C	ENSP00000295550.4:p.Val2890Ala
ENST00000347401.7:c.6845T>C	ENSP00000315609.4:p.Val2282Ala
ENST00000353578.8:c.8051T>C	ENSP00000315873.4:p.Val2684Ala
ENST00000409809.5:c.8051T>C	ENSP00000386844.1:p.Val2684Ala
ENST00000472056.5:c.6848T>C	ENSP00000418285.1:p.Val2283Ala
ENST00000491769.1:n.5111T>C
NM_004369.3:c.8669T>C , LRG_473t1:c.8669T>C	NP_004360.2:p.Val2890Ala
NM_057166.4:c.6848T>C	NP_476507.3:p.Val2283Ala
NM_057167.3:c.8051T>C	NP_476508.2:p.Val2684Ala
XM_005246065.1:c.8069T>C	XP_005246122.1:p.Val2690Ala
XM_005246066.1:c.7448T>C	XP_005246123.1:p.Val2483Ala
XM_006712253.1:c.8168T>C	XP_006712316.1:p.Val2723Ala
XM_011510574.1:c.8666T>C	XP_011508876.1:p.Val2889Ala
XM_011510575.1:c.6263T>C	XP_011508877.1:p.Val2088Ala
XM_017003304.1:c.6263T>C	XP_016858793.1:p.Val2088Ala
XM_024452684.1:c.7448T>C	XP_024308452.1:p.Val2483Ala
NM_004369.4:c.8669T>C MANE Select	NP_004360.2:p.Val2890Ala
NM_057166.5:c.6848T>C	NP_476507.3:p.Val2283Ala
NM_057167.4:c.8051T>C	NP_476508.2:p.Val2684Ala