Canonical Allele Identifier: CA351196684
Gene: COL6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1489536023

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237371846C>T , CM000664.2:g.237371846C>T GRCh38
NC_000002.11:g.238280489C>T , CM000664.1:g.238280489C>T GRCh37
NC_000002.10:g.237945228C>T NCBI36
NG_008676.1:g.47362G>A , LRG_473:g.47362G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000353578.9:c.3553G>A ENSP00000315873.4:p.Val1185Met
ENST00000684597.1:c.2G>A
ENST00000295550.9:c.4171G>A MANE Select ENSP00000295550.4:p.Val1391Met
ENST00000295550.8:c.4171G>A ENSP00000295550.4:p.Val1391Met
ENST00000347401.7:c.2350G>A ENSP00000315609.4:p.Val784Met
ENST00000353578.8:c.3553G>A ENSP00000315873.4:p.Val1185Met
ENST00000392003.6:c.2950G>A ENSP00000375860.2:p.Val984Met
ENST00000392004.7:c.3553G>A ENSP00000375861.3:p.Val1185Met
ENST00000409809.5:c.3553G>A ENSP00000386844.1:p.Val1185Met
ENST00000472056.5:c.2350G>A ENSP00000418285.1:p.Val784Met
NM_004369.3:c.4171G>A , LRG_473t1:c.4171G>A NP_004360.2:p.Val1391Met
NM_057164.4:c.2950G>A NP_476505.3:p.Val984Met
NM_057165.4:c.3553G>A NP_476506.3:p.Val1185Met
NM_057166.4:c.2350G>A NP_476507.3:p.Val784Met
NM_057167.3:c.3553G>A NP_476508.2:p.Val1185Met
XM_005246065.1:c.3571G>A XP_005246122.1:p.Val1191Met
XM_005246066.1:c.2950G>A XP_005246123.1:p.Val984Met
XM_006712253.1:c.4171G>A XP_006712316.1:p.Val1391Met
XM_011510574.1:c.4171G>A XP_011508876.1:p.Val1391Met
XM_011510575.1:c.1765G>A XP_011508877.1:p.Val589Met
XM_017003304.1:c.1765G>A XP_016858793.1:p.Val589Met
XM_024452684.1:c.2950G>A XP_024308452.1:p.Val984Met
NM_004369.4:c.4171G>A MANE Select NP_004360.2:p.Val1391Met
NM_057164.5:c.2950G>A NP_476505.3:p.Val984Met
NM_057165.5:c.3553G>A NP_476506.3:p.Val1185Met
NM_057166.5:c.2350G>A NP_476507.3:p.Val784Met
NM_057167.4:c.3553G>A NP_476508.2:p.Val1185Met