Canonical Allele Identifier: CA242967

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 196130
• ClinVar RCV Id: RCV000176876 ; RCV002517705
• dbSNP Id: rs794727464
• gnomAD v4: 2-237350214-A-G
• MyVariant Identifiers: chr2:g.238258857A>G (hg19) ; chr2:g.237350214A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237350214A>G , CM000664.2:g.237350214A>G	GRCh38
NC_000002.11:g.238258857A>G , CM000664.1:g.238258857A>G	GRCh37
NC_000002.10:g.237923596A>G	NCBI36
NG_008676.1:g.68994T>C , LRG_473:g.68994T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.6199-5T>C	ENSP00000315873.4:n.6199-5T>C
ENST00000295550.9:c.6817-5T>C MANE Select	ENSP00000295550.4:n.6817-5T>C
ENST00000295550.8:c.6817-5T>C	ENSP00000295550.4:n.6817-5T>C
ENST00000347401.7:c.4996-5T>C	ENSP00000315609.4:n.4996-5T>C
ENST00000353578.8:c.6199-5T>C	ENSP00000315873.4:n.6199-5T>C
ENST00000409809.5:c.6199-5T>C	ENSP00000386844.1:n.6199-5T>C
ENST00000472056.5:c.4996-5T>C	ENSP00000418285.1:n.4996-5T>C
ENST00000491769.1:n.1071-5T>C
NM_004369.3:c.6817-5T>C , LRG_473t1:c.6817-5T>C	NP_004360.2:n.6817-5T>C
NM_057166.4:c.4996-5T>C	NP_476507.3:n.4996-5T>C
NM_057167.3:c.6199-5T>C	NP_476508.2:n.6199-5T>C
XM_005246065.1:c.6217-5T>C	XP_005246122.1:n.6217-5T>C
XM_005246066.1:c.5596-5T>C	XP_005246123.1:n.5596-5T>C
XM_006712253.1:c.6316-5T>C	XP_006712316.1:n.6316-5T>C
XM_011510574.1:c.6814-5T>C	XP_011508876.1:n.6814-5T>C
XM_011510575.1:c.4411-5T>C	XP_011508877.1:n.4411-5T>C
XM_017003304.1:c.4411-5T>C	XP_016858793.1:n.4411-5T>C
XM_024452684.1:c.5596-5T>C	XP_024308452.1:n.5596-5T>C
NM_004369.4:c.6817-5T>C MANE Select	NP_004360.2:n.6817-5T>C
NM_057166.5:c.4996-5T>C	NP_476507.3:n.4996-5T>C
NM_057167.4:c.6199-5T>C	NP_476508.2:n.6199-5T>C