Canonical Allele Identifier: CA200149
Gene: COL6A3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 192264
dbSNP Id: rs541928674

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237344516C>T , CM000664.2:g.237344516C>T GRCh38
NC_000002.11:g.238253159C>T , CM000664.1:g.238253159C>T GRCh37
NC_000002.10:g.237917898C>T NCBI36
NG_008676.1:g.74692G>A , LRG_473:g.74692G>A

Transcript Alleles

HGVS Amino-acid change
NM_004369.3:c.7502G>A , LRG_473t1:c.7502G>A NP_004360.2:p.Arg2501His
NM_057166.4:c.5681G>A VV NP_476507.3:p.Arg1894His
NM_057167.3:c.6884G>A VV NP_476508.2:p.Arg2295His
XM_005246065.1:c.6902G>A XP_005246122.1:p.Arg2301His
XM_005246066.1:c.6281G>A XP_005246123.1:p.Arg2094His
XM_006712253.1:c.7001G>A XP_006712316.1:p.Arg2334His
XM_011510574.1:c.7499G>A XP_011508876.1:p.Arg2500His
XM_011510575.1:c.5096G>A XP_011508877.1:p.Arg1699His
XM_017003304.1:c.5096G>A XP_016858793.1:p.Arg1699His
XM_024452684.1:c.6281G>A XP_024308452.1:p.Arg2094His
ENST00000295550.8:c.7502G>A ENSP00000295550.4:p.Arg2501His
ENST00000347401.7:c.5678G>A ENSP00000315609.4:p.Arg1893His
ENST00000353578.8:c.6884G>A ENSP00000315873.4:p.Arg2295His
ENST00000409809.5:n.6884G>A ENSP00000386844.1:p.Arg2295His
ENST00000472056.5:c.5681G>A ENSP00000418285.1:p.Arg1894His
ENST00000491769.1:n.1756G>A