Canonical Allele Identifier: CA10604176

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 282435
• ClinVar RCV Id: RCV000377976 ; RCV001405636
• dbSNP Id: rs886042395
• gnomAD v4: 2-237346569-G-C
• MyVariant Identifiers: chr2:g.238255212G>C (hg19) ; chr2:g.237346569G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237346569G>C , CM000664.2:g.237346569G>C	GRCh38
NC_000002.11:g.238255212G>C , CM000664.1:g.238255212G>C	GRCh37
NC_000002.10:g.237919951G>C	NCBI36
NG_008676.1:g.72639C>G , LRG_473:g.72639C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.6412-4C>G	ENSP00000315873.4:n.6412-4C>G
ENST00000295550.9:c.7030-4C>G MANE Select	ENSP00000295550.4:n.7030-4C>G
ENST00000295550.8:c.7030-4C>G	ENSP00000295550.4:n.7030-4C>G
ENST00000347401.7:c.5209-4C>G	ENSP00000315609.4:n.5209-4C>G
ENST00000353578.8:c.6412-4C>G	ENSP00000315873.4:n.6412-4C>G
ENST00000409809.5:c.6412-4C>G	ENSP00000386844.1:n.6412-4C>G
ENST00000472056.5:c.5209-4C>G	ENSP00000418285.1:n.5209-4C>G
ENST00000491769.1:n.1284-4C>G
NM_004369.3:c.7030-4C>G , LRG_473t1:c.7030-4C>G	NP_004360.2:n.7030-4C>G
NM_057166.4:c.5209-4C>G	NP_476507.3:n.5209-4C>G
NM_057167.3:c.6412-4C>G	NP_476508.2:n.6412-4C>G
XM_005246065.1:c.6430-4C>G	XP_005246122.1:n.6430-4C>G
XM_005246066.1:c.5809-4C>G	XP_005246123.1:n.5809-4C>G
XM_006712253.1:c.6529-4C>G	XP_006712316.1:n.6529-4C>G
XM_011510574.1:c.7027-4C>G	XP_011508876.1:n.7027-4C>G
XM_011510575.1:c.4624-4C>G	XP_011508877.1:n.4624-4C>G
XM_017003304.1:c.4624-4C>G	XP_016858793.1:n.4624-4C>G
XM_024452684.1:c.5809-4C>G	XP_024308452.1:n.5809-4C>G
NM_004369.4:c.7030-4C>G MANE Select	NP_004360.2:n.7030-4C>G
NM_057166.5:c.5209-4C>G	NP_476507.3:n.5209-4C>G
NM_057167.4:c.6412-4C>G	NP_476508.2:n.6412-4C>G