Canonical Allele Identifier: CA67839186

Gene: COL6A3

Linked Data

• dbSNP Id: rs868160631
• MyVariant Identifiers: chr2:g.238253127C>T (hg19) ; chr2:g.237344484C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344484C>T , CM000664.2:g.237344484C>T	GRCh38
NC_000002.11:g.238253127C>T , CM000664.1:g.238253127C>T	GRCh37
NC_000002.10:g.237917866C>T	NCBI36
NG_008676.1:g.74724G>A , LRG_473:g.74724G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.179G>A
ENST00000353578.9:c.6916G>A	ENSP00000315873.4:p.Ala2306Thr
ENST00000295550.9:c.7534G>A MANE Select	ENSP00000295550.4:p.Ala2512Thr
ENST00000295550.8:c.7534G>A	ENSP00000295550.4:p.Ala2512Thr
ENST00000347401.7:c.5710G>A	ENSP00000315609.4:p.Ala1904Thr
ENST00000353578.8:c.6916G>A	ENSP00000315873.4:p.Ala2306Thr
ENST00000409809.5:c.6916G>A	ENSP00000386844.1:p.Ala2306Thr
ENST00000472056.5:c.5713G>A	ENSP00000418285.1:p.Ala1905Thr
ENST00000491769.1:n.1788G>A
NM_004369.3:c.7534G>A , LRG_473t1:c.7534G>A	NP_004360.2:p.Ala2512Thr
NM_057166.4:c.5713G>A	NP_476507.3:p.Ala1905Thr
NM_057167.3:c.6916G>A	NP_476508.2:p.Ala2306Thr
XM_005246065.1:c.6934G>A	XP_005246122.1:p.Ala2312Thr
XM_005246066.1:c.6313G>A	XP_005246123.1:p.Ala2105Thr
XM_006712253.1:c.7033G>A	XP_006712316.1:p.Ala2345Thr
XM_011510574.1:c.7531G>A	XP_011508876.1:p.Ala2511Thr
XM_011510575.1:c.5128G>A	XP_011508877.1:p.Ala1710Thr
XM_017003304.1:c.5128G>A	XP_016858793.1:p.Ala1710Thr
XM_024452684.1:c.6313G>A	XP_024308452.1:p.Ala2105Thr
NM_004369.4:c.7534G>A MANE Select	NP_004360.2:p.Ala2512Thr
NM_057166.5:c.5713G>A	NP_476507.3:p.Ala1905Thr
NM_057167.4:c.6916G>A	NP_476508.2:p.Ala2306Thr