Canonical Allele Identifier: CA2187407

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 2767261
• ClinVar RCV Id: RCV003517737
• dbSNP Id: rs762246297
• ExAC: 2:238244788 A / G
• gnomAD v2: 2-238244788-A-G
• gnomAD v3: 2-237336145-A-G
• gnomAD v4: 2-237336145-A-G
• MyVariant Identifiers: chr2:g.238244788A>G (hg19) ; chr2:g.237336145A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336145A>G , CM000664.2:g.237336145A>G	GRCh38
NC_000002.11:g.238244788A>G , CM000664.1:g.238244788A>G	GRCh37
NC_000002.10:g.237909527A>G	NCBI36
NG_008676.1:g.83063T>C , LRG_473:g.83063T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1600T>C
ENST00000353578.9:c.8337T>C	ENSP00000315873.4:p.Thr2779=
ENST00000682957.1:c.1082T>C
ENST00000684508.1:n.1222T>C
ENST00000295550.9:c.8955T>C MANE Select	ENSP00000295550.4:p.Thr2985=
ENST00000295550.8:c.8955T>C	ENSP00000295550.4:p.Thr2985=
ENST00000347401.7:c.7131T>C	ENSP00000315609.4:p.Thr2377=
ENST00000353578.8:c.8337T>C	ENSP00000315873.4:p.Thr2779=
ENST00000409809.5:c.8337T>C	ENSP00000386844.1:p.Thr2779=
ENST00000472056.5:c.7134T>C	ENSP00000418285.1:p.Thr2378=
ENST00000491769.1:n.5397T>C
NM_004369.3:c.8955T>C , LRG_473t1:c.8955T>C	NP_004360.2:p.Thr2985=
NM_057166.4:c.7134T>C	NP_476507.3:p.Thr2378=
NM_057167.3:c.8337T>C	NP_476508.2:p.Thr2779=
XM_005246065.1:c.8355T>C	XP_005246122.1:p.Thr2785=
XM_005246066.1:c.7734T>C	XP_005246123.1:p.Thr2578=
XM_006712253.1:c.8454T>C	XP_006712316.1:p.Thr2818=
XM_011510574.1:c.8952T>C	XP_011508876.1:p.Thr2984=
XM_011510575.1:c.6549T>C	XP_011508877.1:p.Thr2183=
XM_017003304.1:c.6549T>C	XP_016858793.1:p.Thr2183=
XM_024452684.1:c.7734T>C	XP_024308452.1:p.Thr2578=
NM_004369.4:c.8955T>C MANE Select	NP_004360.2:p.Thr2985=
NM_057166.5:c.7134T>C	NP_476507.3:p.Thr2378=
NM_057167.4:c.8337T>C	NP_476508.2:p.Thr2779=