Canonical Allele Identifier: CA203065
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 197761
dbSNP Id: rs116794756

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237381334A>G , CM000664.2:g.237381334A>G GRCh38
NC_000002.11:g.238289977A>G , CM000664.1:g.238289977A>G GRCh37
NC_000002.10:g.237954716A>G NCBI36
NG_008676.1:g.37874T>C , LRG_473:g.37874T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000353578.9:c.860T>C ENSP00000315873.4:p.Val287Ala
ENST00000682405.1:n.251T>C
ENST00000295550.9:c.1478T>C MANE Select ENSP00000295550.4:p.Val493Ala
ENST00000295550.8:c.1478T>C ENSP00000295550.4:p.Val493Ala
ENST00000347401.7:c.257T>C ENSP00000315609.4:p.Val86Ala
ENST00000353578.8:c.860T>C ENSP00000315873.4:p.Val287Ala
ENST00000392003.6:c.257T>C ENSP00000375860.2:p.Val86Ala
ENST00000392004.7:c.860T>C ENSP00000375861.3:p.Val287Ala
ENST00000409809.5:c.860T>C ENSP00000386844.1:p.Val287Ala
ENST00000433762.1:c.1478T>C ENSP00000389539.1:p.Val493Ala
ENST00000472056.5:c.257T>C ENSP00000418285.1:p.Val86Ala
NM_004369.3:c.1478T>C , LRG_473t1:c.1478T>C NP_004360.2:p.Val493Ala
NM_057164.4:c.257T>C NP_476505.3:p.Val86Ala
NM_057165.4:c.860T>C NP_476506.3:p.Val287Ala
NM_057166.4:c.257T>C NP_476507.3:p.Val86Ala
NM_057167.3:c.860T>C NP_476508.2:p.Val287Ala
XM_005246065.1:c.1478T>C XP_005246122.1:p.Val493Ala
XM_005246066.1:c.257T>C XP_005246123.1:p.Val86Ala
XM_006712253.1:c.1478T>C XP_006712316.1:p.Val493Ala
XM_011510574.1:c.1478T>C XP_011508876.1:p.Val493Ala
XM_011510575.1:c.92-3990T>C XP_011508877.1:n.92-3990T>C
XM_017003304.1:c.92-3990T>C XP_016858793.1:n.92-3990T>C
XM_024452684.1:c.257T>C XP_024308452.1:p.Val86Ala
NM_004369.4:c.1478T>C MANE Select NP_004360.2:p.Val493Ala
NM_057164.5:c.257T>C NP_476505.3:p.Val86Ala
NM_057165.5:c.860T>C NP_476506.3:p.Val287Ala
NM_057166.5:c.257T>C NP_476507.3:p.Val86Ala
NM_057167.4:c.860T>C NP_476508.2:p.Val287Ala