Canonical Allele Identifier: CA2187487

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 704008
• ClinVar RCV Id: RCV000873885
• dbSNP Id: rs143006225
• ExAC: 2:238245115 C / T
• gnomAD v2: 2-238245115-C-T
• gnomAD v3: 2-237336472-C-T
• gnomAD v4: 2-237336472-C-T
• MyVariant Identifiers: chr2:g.238245115C>T (hg19) ; chr2:g.237336472C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336472C>T , CM000664.2:g.237336472C>T	GRCh38
NC_000002.11:g.238245115C>T , CM000664.1:g.238245115C>T	GRCh37
NC_000002.10:g.237909854C>T	NCBI36
NG_008676.1:g.82736G>A , LRG_473:g.82736G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1273G>A
ENST00000353578.9:c.8010G>A	ENSP00000315873.4:p.Pro2670=
ENST00000682957.1:c.755G>A
ENST00000684508.1:n.895G>A
ENST00000295550.9:c.8628G>A MANE Select	ENSP00000295550.4:p.Pro2876=
ENST00000295550.8:c.8628G>A	ENSP00000295550.4:p.Pro2876=
ENST00000347401.7:c.6804G>A	ENSP00000315609.4:p.Pro2268=
ENST00000353578.8:c.8010G>A	ENSP00000315873.4:p.Pro2670=
ENST00000409809.5:c.8010G>A	ENSP00000386844.1:p.Pro2670=
ENST00000472056.5:c.6807G>A	ENSP00000418285.1:p.Pro2269=
ENST00000491769.1:n.5070G>A
NM_004369.3:c.8628G>A , LRG_473t1:c.8628G>A	NP_004360.2:p.Pro2876=
NM_057166.4:c.6807G>A	NP_476507.3:p.Pro2269=
NM_057167.3:c.8010G>A	NP_476508.2:p.Pro2670=
XM_005246065.1:c.8028G>A	XP_005246122.1:p.Pro2676=
XM_005246066.1:c.7407G>A	XP_005246123.1:p.Pro2469=
XM_006712253.1:c.8127G>A	XP_006712316.1:p.Pro2709=
XM_011510574.1:c.8625G>A	XP_011508876.1:p.Pro2875=
XM_011510575.1:c.6222G>A	XP_011508877.1:p.Pro2074=
XM_017003304.1:c.6222G>A	XP_016858793.1:p.Pro2074=
XM_024452684.1:c.7407G>A	XP_024308452.1:p.Pro2469=
NM_004369.4:c.8628G>A MANE Select	NP_004360.2:p.Pro2876=
NM_057166.5:c.6807G>A	NP_476507.3:p.Pro2269=
NM_057167.4:c.8010G>A	NP_476508.2:p.Pro2670=