Canonical Allele Identifier: CA431674899
Gene: COL6A3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.238245112C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237336469C>G , CM000664.2:g.237336469C>G GRCh38
NC_000002.11:g.238245112C>G , CM000664.1:g.238245112C>G GRCh37
NC_000002.10:g.237909851C>G NCBI36
NG_008676.1:g.82739G>C , LRG_473:g.82739G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000347401.8:c.1276G>C
ENST00000353578.9:c.8013G>C ENSP00000315873.4:p.Val2671=
ENST00000682957.1:c.758G>C
ENST00000684508.1:n.898G>C
ENST00000295550.9:c.8631G>C MANE Select ENSP00000295550.4:p.Val2877=
ENST00000295550.8:c.8631G>C ENSP00000295550.4:p.Val2877=
ENST00000347401.7:c.6807G>C ENSP00000315609.4:p.Val2269=
ENST00000353578.8:c.8013G>C ENSP00000315873.4:p.Val2671=
ENST00000409809.5:c.8013G>C ENSP00000386844.1:p.Val2671=
ENST00000472056.5:c.6810G>C ENSP00000418285.1:p.Val2270=
ENST00000491769.1:n.5073G>C
NM_004369.3:c.8631G>C , LRG_473t1:c.8631G>C NP_004360.2:p.Val2877=
NM_057166.4:c.6810G>C NP_476507.3:p.Val2270=
NM_057167.3:c.8013G>C NP_476508.2:p.Val2671=
XM_005246065.1:c.8031G>C XP_005246122.1:p.Val2677=
XM_005246066.1:c.7410G>C XP_005246123.1:p.Val2470=
XM_006712253.1:c.8130G>C XP_006712316.1:p.Val2710=
XM_011510574.1:c.8628G>C XP_011508876.1:p.Val2876=
XM_011510575.1:c.6225G>C XP_011508877.1:p.Val2075=
XM_017003304.1:c.6225G>C XP_016858793.1:p.Val2075=
XM_024452684.1:c.7410G>C XP_024308452.1:p.Val2470=
NM_004369.4:c.8631G>C MANE Select NP_004360.2:p.Val2877=
NM_057166.5:c.6810G>C NP_476507.3:p.Val2270=
NM_057167.4:c.8013G>C NP_476508.2:p.Val2671=