Canonical Allele Identifier: CA67829329

Gene: COL6A3

Linked Data

• dbSNP Id: rs549307351
• gnomAD v2: 2-238243208-G-C
• gnomAD v3: 2-237334565-G-C
• gnomAD v4: 2-237334565-G-C
• MyVariant Identifiers: chr2:g.238243208G>C (hg19) ; chr2:g.237334565G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334565G>C , CM000664.2:g.237334565G>C	GRCh38
NC_000002.11:g.238243208G>C , CM000664.1:g.238243208G>C	GRCh37
NC_000002.10:g.237907947G>C	NCBI36
NG_008676.1:g.84643C>G , LRG_473:g.84643C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.1611-1017C>G
ENST00000353578.9:c.8611+61C>G	ENSP00000315873.4:n.8611+61C>G
ENST00000682957.1:c.1356+61C>G
ENST00000683348.1:c.97+61C>G	ENSP00000508058.1:n.97+61C>G
ENST00000295550.9:c.9229+61C>G MANE Select	ENSP00000295550.4:n.9229+61C>G
ENST00000295550.8:c.9229+61C>G	ENSP00000295550.4:n.9229+61C>G
ENST00000347401.7:c.7405+61C>G	ENSP00000315609.4:n.7405+61C>G
ENST00000353578.8:c.8611+61C>G	ENSP00000315873.4:n.8611+61C>G
ENST00000409809.5:c.8611+61C>G	ENSP00000386844.1:n.8611+61C>G
ENST00000472056.5:c.7408+61C>G	ENSP00000418285.1:n.7408+61C>G
ENST00000491769.1:n.5671+61C>G
ENST00000493608.1:n.161+61C>G
NM_004369.3:c.9229+61C>G , LRG_473t1:c.9229+61C>G	NP_004360.2:n.9229+61C>G
NM_057166.4:c.7408+61C>G	NP_476507.3:n.7408+61C>G
NM_057167.3:c.8611+61C>G	NP_476508.2:n.8611+61C>G
XM_005246065.1:c.8629+61C>G	XP_005246122.1:n.8629+61C>G
XM_005246066.1:c.8008+61C>G	XP_005246123.1:n.8008+61C>G
XM_006712253.1:c.8728+61C>G	XP_006712316.1:n.8728+61C>G
XM_011510574.1:c.9226+61C>G	XP_011508876.1:n.9226+61C>G
XM_011510575.1:c.6823+61C>G	XP_011508877.1:n.6823+61C>G
XM_017003304.1:c.6823+61C>G	XP_016858793.1:n.6823+61C>G
XM_024452684.1:c.8008+61C>G	XP_024308452.1:n.8008+61C>G
NM_004369.4:c.9229+61C>G MANE Select	NP_004360.2:n.9229+61C>G
NM_057166.5:c.7408+61C>G	NP_476507.3:n.7408+61C>G
NM_057167.4:c.8611+61C>G	NP_476508.2:n.8611+61C>G