Canonical Allele Identifier: CA2188756
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 288390
dbSNP Id: rs140516220

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237367168G>A , CM000664.2:g.237367168G>A GRCh38
NC_000002.11:g.238275811G>A , CM000664.1:g.238275811G>A GRCh37
NC_000002.10:g.237940550G>A NCBI36
NG_008676.1:g.52040C>T , LRG_473:g.52040C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000353578.9:c.4401C>T ENSP00000315873.4:p.Gly1467=
ENST00000684597.1:c.349C>T
ENST00000295550.9:c.5019C>T MANE Select ENSP00000295550.4:p.Gly1673=
ENST00000295550.8:c.5019C>T ENSP00000295550.4:p.Gly1673=
ENST00000347401.7:c.3198C>T ENSP00000315609.4:p.Gly1066=
ENST00000353578.8:c.4401C>T ENSP00000315873.4:p.Gly1467=
ENST00000409809.5:c.4401C>T ENSP00000386844.1:p.Gly1467=
ENST00000472056.5:c.3198C>T ENSP00000418285.1:p.Gly1066=
NM_004369.3:c.5019C>T , LRG_473t1:c.5019C>T NP_004360.2:p.Gly1673=
NM_057166.4:c.3198C>T NP_476507.3:p.Gly1066=
NM_057167.3:c.4401C>T NP_476508.2:p.Gly1467=
XM_005246065.1:c.4419C>T XP_005246122.1:p.Gly1473=
XM_005246066.1:c.3798C>T XP_005246123.1:p.Gly1266=
XM_006712253.1:c.4518C>T XP_006712316.1:p.Gly1506=
XM_011510574.1:c.5016C>T XP_011508876.1:p.Gly1672=
XM_011510575.1:c.2613C>T XP_011508877.1:p.Gly871=
XM_017003304.1:c.2613C>T XP_016858793.1:p.Gly871=
XM_024452684.1:c.3798C>T XP_024308452.1:p.Gly1266=
NM_004369.4:c.5019C>T MANE Select NP_004360.2:p.Gly1673=
NM_057166.5:c.3198C>T NP_476507.3:p.Gly1066=
NM_057167.4:c.4401C>T NP_476508.2:p.Gly1467=