Canonical Allele Identifier: CA351190895

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 897652
• ClinVar RCV Id: RCV001141062
• dbSNP Id: rs1700530729
• gnomAD v3: 2-237336146-G-C
• gnomAD v4: 2-237336146-G-C
• MyVariant Identifiers: chr2:g.238244789G>C (hg19) ; chr2:g.237336146G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336146G>C , CM000664.2:g.237336146G>C	GRCh38
NC_000002.11:g.238244789G>C , CM000664.1:g.238244789G>C	GRCh37
NC_000002.10:g.237909528G>C	NCBI36
NG_008676.1:g.83062C>G , LRG_473:g.83062C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1599C>G
ENST00000353578.9:c.8336C>G	ENSP00000315873.4:p.Thr2779Ser
ENST00000682957.1:c.1081C>G
ENST00000684508.1:n.1221C>G
ENST00000295550.9:c.8954C>G MANE Select	ENSP00000295550.4:p.Thr2985Ser
ENST00000295550.8:c.8954C>G	ENSP00000295550.4:p.Thr2985Ser
ENST00000347401.7:c.7130C>G	ENSP00000315609.4:p.Thr2377Ser
ENST00000353578.8:c.8336C>G	ENSP00000315873.4:p.Thr2779Ser
ENST00000409809.5:c.8336C>G	ENSP00000386844.1:p.Thr2779Ser
ENST00000472056.5:c.7133C>G	ENSP00000418285.1:p.Thr2378Ser
ENST00000491769.1:n.5396C>G
NM_004369.3:c.8954C>G , LRG_473t1:c.8954C>G	NP_004360.2:p.Thr2985Ser
NM_057166.4:c.7133C>G	NP_476507.3:p.Thr2378Ser
NM_057167.3:c.8336C>G	NP_476508.2:p.Thr2779Ser
XM_005246065.1:c.8354C>G	XP_005246122.1:p.Thr2785Ser
XM_005246066.1:c.7733C>G	XP_005246123.1:p.Thr2578Ser
XM_006712253.1:c.8453C>G	XP_006712316.1:p.Thr2818Ser
XM_011510574.1:c.8951C>G	XP_011508876.1:p.Thr2984Ser
XM_011510575.1:c.6548C>G	XP_011508877.1:p.Thr2183Ser
XM_017003304.1:c.6548C>G	XP_016858793.1:p.Thr2183Ser
XM_024452684.1:c.7733C>G	XP_024308452.1:p.Thr2578Ser
NM_004369.4:c.8954C>G MANE Select	NP_004360.2:p.Thr2985Ser
NM_057166.5:c.7133C>G	NP_476507.3:p.Thr2378Ser
NM_057167.4:c.8336C>G	NP_476508.2:p.Thr2779Ser