Canonical Allele Identifier: CA2189516

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 501030
• ClinVar RCV Id: RCV000598458 ; RCV001501789
• dbSNP Id: rs373563217
• ExAC: 2:238287883 A / G
• gnomAD v2: 2-238287883-A-G
• gnomAD v3: 2-237379240-A-G
• gnomAD v4: 2-237379240-A-G
• MyVariant Identifiers: chr2:g.238287883A>G (hg19) ; chr2:g.237379240A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237379240A>G , CM000664.2:g.237379240A>G	GRCh38
NC_000002.11:g.238287883A>G , CM000664.1:g.238287883A>G	GRCh37
NC_000002.10:g.237952622A>G	NCBI36
NG_008676.1:g.39968T>C , LRG_473:g.39968T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.1280-5T>C	ENSP00000315873.4:n.1280-5T>C
ENST00000295550.9:c.1898-5T>C MANE Select	ENSP00000295550.4:n.1898-5T>C
ENST00000295550.8:c.1898-5T>C	ENSP00000295550.4:n.1898-5T>C
ENST00000347401.7:c.676+1675T>C	ENSP00000315609.4:n.676+1675T>C
ENST00000353578.8:c.1280-5T>C	ENSP00000315873.4:n.1280-5T>C
ENST00000392003.6:c.677-5T>C	ENSP00000375860.2:n.677-5T>C
ENST00000392004.7:c.1280-5T>C	ENSP00000375861.3:n.1280-5T>C
ENST00000409809.5:c.1280-5T>C	ENSP00000386844.1:n.1280-5T>C
ENST00000433762.1:c.1897+1675T>C	ENSP00000389539.1:n.1897+1675T>C
ENST00000472056.5:c.676+1675T>C	ENSP00000418285.1:n.676+1675T>C
NM_004369.3:c.1898-5T>C , LRG_473t1:c.1898-5T>C	NP_004360.2:n.1898-5T>C
NM_057164.4:c.677-5T>C	NP_476505.3:n.677-5T>C
NM_057165.4:c.1280-5T>C	NP_476506.3:n.1280-5T>C
NM_057166.4:c.676+1675T>C	NP_476507.3:n.676+1675T>C
NM_057167.3:c.1280-5T>C	NP_476508.2:n.1280-5T>C
XM_005246065.1:c.1897+1675T>C	XP_005246122.1:n.1897+1675T>C
XM_005246066.1:c.677-5T>C	XP_005246123.1:n.677-5T>C
XM_006712253.1:c.1898-5T>C	XP_006712316.1:n.1898-5T>C
XM_011510574.1:c.1898-5T>C	XP_011508876.1:n.1898-5T>C
XM_011510575.1:c.92-1896T>C	XP_011508877.1:n.92-1896T>C
XM_017003304.1:c.92-1896T>C	XP_016858793.1:n.92-1896T>C
XM_024452684.1:c.677-5T>C	XP_024308452.1:n.677-5T>C
NM_004369.4:c.1898-5T>C MANE Select	NP_004360.2:n.1898-5T>C
NM_057164.5:c.677-5T>C	NP_476505.3:n.677-5T>C
NM_057165.5:c.1280-5T>C	NP_476506.3:n.1280-5T>C
NM_057166.5:c.676+1675T>C	NP_476507.3:n.676+1675T>C
NM_057167.4:c.1280-5T>C	NP_476508.2:n.1280-5T>C