Canonical Allele Identifier: CA351224129
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 426747
ClinVar RCV Id: RCV000489792
dbSNP Id: rs1085307777
COSMIC: COSM213216

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237388145G>T , CM000664.2:g.237388145G>T GRCh38
NC_000002.11:g.238296788G>T , CM000664.1:g.238296788G>T GRCh37
NC_000002.10:g.237961527G>T NCBI36
NG_008676.1:g.31063C>A , LRG_473:g.31063C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000353578.9:c.131C>A ENSP00000315873.4:p.Ser44Ter
ENST00000682405.1:n.86-6646C>A
ENST00000295550.9:c.749C>A MANE Select ENSP00000295550.4:p.Ser250Ter
ENST00000295550.8:c.749C>A ENSP00000295550.4:p.Ser250Ter
ENST00000347401.7:c.92-6646C>A ENSP00000315609.4:n.92-6646C>A
ENST00000353578.8:c.131C>A ENSP00000315873.4:p.Ser44Ter
ENST00000392003.6:c.92-6646C>A ENSP00000375860.2:n.92-6646C>A
ENST00000392004.7:c.131C>A ENSP00000375861.3:p.Ser44Ter
ENST00000409809.5:c.131C>A ENSP00000386844.1:p.Ser44Ter
ENST00000433762.1:c.749C>A ENSP00000389539.1:p.Ser250Ter
ENST00000472056.5:c.92-6646C>A ENSP00000418285.1:n.92-6646C>A
NM_004369.3:c.749C>A , LRG_473t1:c.749C>A NP_004360.2:p.Ser250Ter
NM_057164.4:c.92-6646C>A NP_476505.3:n.92-6646C>A
NM_057165.4:c.131C>A NP_476506.3:p.Ser44Ter
NM_057166.4:c.92-6646C>A NP_476507.3:n.92-6646C>A
NM_057167.3:c.131C>A NP_476508.2:p.Ser44Ter
XM_005246065.1:c.749C>A XP_005246122.1:p.Ser250Ter
XM_005246066.1:c.92-6646C>A XP_005246123.1:n.92-6646C>A
XM_006712253.1:c.749C>A XP_006712316.1:p.Ser250Ter
XM_011510574.1:c.749C>A XP_011508876.1:p.Ser250Ter
XM_011510575.1:c.91+8582C>A XP_011508877.1:n.91+8582C>A
XM_017003304.1:c.91+8582C>A XP_016858793.1:n.91+8582C>A
XM_024452684.1:c.92-6646C>A XP_024308452.1:n.92-6646C>A
NM_004369.4:c.749C>A MANE Select NP_004360.2:p.Ser250Ter
NM_057164.5:c.92-6646C>A NP_476505.3:n.92-6646C>A
NM_057165.5:c.131C>A NP_476506.3:p.Ser44Ter
NM_057166.5:c.92-6646C>A NP_476507.3:n.92-6646C>A
NM_057167.4:c.131C>A NP_476508.2:p.Ser44Ter