Canonical Allele Identifier: CA233825
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 166939
dbSNP Id: rs116690555

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237352524G>A , CM000664.2:g.237352524G>A GRCh38
NC_000002.11:g.238261167G>A , CM000664.1:g.238261167G>A GRCh37
NC_000002.10:g.237925906G>A NCBI36
NG_008676.1:g.66684C>T , LRG_473:g.66684C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000353578.9:c.6133C>T ENSP00000315873.4:p.Arg2045Trp
ENST00000295550.9:c.6751C>T MANE Select ENSP00000295550.4:p.Arg2251Trp
ENST00000295550.8:c.6751C>T ENSP00000295550.4:p.Arg2251Trp
ENST00000347401.7:c.4930C>T ENSP00000315609.4:p.Arg1644Trp
ENST00000353578.8:c.6133C>T ENSP00000315873.4:p.Arg2045Trp
ENST00000409809.5:c.6133C>T ENSP00000386844.1:p.Arg2045Trp
ENST00000472056.5:c.4930C>T ENSP00000418285.1:p.Arg1644Trp
ENST00000491769.1:n.1005C>T
NM_004369.3:c.6751C>T , LRG_473t1:c.6751C>T NP_004360.2:p.Arg2251Trp
NM_057166.4:c.4930C>T NP_476507.3:p.Arg1644Trp
NM_057167.3:c.6133C>T NP_476508.2:p.Arg2045Trp
XM_005246065.1:c.6151C>T XP_005246122.1:p.Arg2051Trp
XM_005246066.1:c.5530C>T XP_005246123.1:p.Arg1844Trp
XM_006712253.1:c.6250C>T XP_006712316.1:p.Arg2084Trp
XM_011510574.1:c.6748C>T XP_011508876.1:p.Arg2250Trp
XM_011510575.1:c.4345C>T XP_011508877.1:p.Arg1449Trp
XM_017003304.1:c.4345C>T XP_016858793.1:p.Arg1449Trp
XM_024452684.1:c.5530C>T XP_024308452.1:p.Arg1844Trp
NM_004369.4:c.6751C>T MANE Select NP_004360.2:p.Arg2251Trp
NM_057166.5:c.4930C>T NP_476507.3:p.Arg1644Trp
NM_057167.4:c.6133C>T NP_476508.2:p.Arg2045Trp