Canonical Allele Identifier: CA2187491
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476563
dbSNP Id: rs779335085

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237336479G>A , CM000664.2:g.237336479G>A GRCh38
NC_000002.11:g.238245122G>A , CM000664.1:g.238245122G>A GRCh37
NC_000002.10:g.237909861G>A NCBI36
NG_008676.1:g.82729C>T , LRG_473:g.82729C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000347401.8:c.1266C>T
ENST00000353578.9:c.8003C>T ENSP00000315873.4:p.Thr2668Met
ENST00000682957.1:c.748C>T
ENST00000684508.1:n.888C>T
ENST00000295550.9:c.8621C>T MANE Select ENSP00000295550.4:p.Thr2874Met
ENST00000295550.8:c.8621C>T ENSP00000295550.4:p.Thr2874Met
ENST00000347401.7:c.6797C>T ENSP00000315609.4:p.Thr2266Met
ENST00000353578.8:c.8003C>T ENSP00000315873.4:p.Thr2668Met
ENST00000409809.5:c.8003C>T ENSP00000386844.1:p.Thr2668Met
ENST00000472056.5:c.6800C>T ENSP00000418285.1:p.Thr2267Met
ENST00000491769.1:n.5063C>T
NM_004369.3:c.8621C>T , LRG_473t1:c.8621C>T NP_004360.2:p.Thr2874Met
NM_057166.4:c.6800C>T NP_476507.3:p.Thr2267Met
NM_057167.3:c.8003C>T NP_476508.2:p.Thr2668Met
XM_005246065.1:c.8021C>T XP_005246122.1:p.Thr2674Met
XM_005246066.1:c.7400C>T XP_005246123.1:p.Thr2467Met
XM_006712253.1:c.8120C>T XP_006712316.1:p.Thr2707Met
XM_011510574.1:c.8618C>T XP_011508876.1:p.Thr2873Met
XM_011510575.1:c.6215C>T XP_011508877.1:p.Thr2072Met
XM_017003304.1:c.6215C>T XP_016858793.1:p.Thr2072Met
XM_024452684.1:c.7400C>T XP_024308452.1:p.Thr2467Met
NM_004369.4:c.8621C>T MANE Select NP_004360.2:p.Thr2874Met
NM_057166.5:c.6800C>T NP_476507.3:p.Thr2267Met
NM_057167.4:c.8003C>T NP_476508.2:p.Thr2668Met