Canonical Allele Identifier: CA236133
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 191156
ClinVar RCV Id: RCV000171340 RCV001243937
dbSNP Id: rs200722892
gnomAD v4: 2-237378831-G-C
MyVariant Identifiers: chr2:g.238287474G>C (hg19) chr2:g.237378831G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237378831G>C , CM000664.2:g.237378831G>C GRCh38
NC_000002.11:g.238287474G>C , CM000664.1:g.238287474G>C GRCh37
NC_000002.10:g.237952213G>C NCBI36
NG_008676.1:g.40377C>G , LRG_473:g.40377C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000353578.9:c.1684C>G ENSP00000315873.4:p.Arg562Gly
ENST00000295550.9:c.2302C>G MANE Select ENSP00000295550.4:p.Arg768Gly
ENST00000295550.8:c.2302C>G ENSP00000295550.4:p.Arg768Gly
ENST00000347401.7:c.677-1487C>G ENSP00000315609.4:n.677-1487C>G
ENST00000353578.8:c.1684C>G ENSP00000315873.4:p.Arg562Gly
ENST00000392003.6:c.1081C>G ENSP00000375860.2:p.Arg361Gly
ENST00000392004.7:c.1684C>G ENSP00000375861.3:p.Arg562Gly
ENST00000409809.5:c.1684C>G ENSP00000386844.1:p.Arg562Gly
ENST00000433762.1:c.1898-1487C>G ENSP00000389539.1:n.1898-1487C>G
ENST00000472056.5:c.677-1487C>G ENSP00000418285.1:n.677-1487C>G
NM_004369.3:c.2302C>G , LRG_473t1:c.2302C>G NP_004360.2:p.Arg768Gly
NM_057164.4:c.1081C>G NP_476505.3:p.Arg361Gly
NM_057165.4:c.1684C>G NP_476506.3:p.Arg562Gly
NM_057166.4:c.677-1487C>G NP_476507.3:n.677-1487C>G
NM_057167.3:c.1684C>G NP_476508.2:p.Arg562Gly
XM_005246065.1:c.1898-1487C>G XP_005246122.1:n.1898-1487C>G
XM_005246066.1:c.1081C>G XP_005246123.1:p.Arg361Gly
XM_006712253.1:c.2302C>G XP_006712316.1:p.Arg768Gly
XM_011510574.1:c.2302C>G XP_011508876.1:p.Arg768Gly
XM_011510575.1:c.92-1487C>G XP_011508877.1:n.92-1487C>G
XM_017003304.1:c.92-1487C>G XP_016858793.1:n.92-1487C>G
XM_024452684.1:c.1081C>G XP_024308452.1:p.Arg361Gly
NM_004369.4:c.2302C>G MANE Select NP_004360.2:p.Arg768Gly
NM_057164.5:c.1081C>G NP_476505.3:p.Arg361Gly
NM_057165.5:c.1684C>G NP_476506.3:p.Arg562Gly
NM_057166.5:c.677-1487C>G NP_476507.3:n.677-1487C>G
NM_057167.4:c.1684C>G NP_476508.2:p.Arg562Gly
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