Canonical Allele Identifier: CA431699142

Gene: COL6A3

Linked Data

• dbSNP Id: rs1480447833
• gnomAD v3: 2-237334783-G-T
• gnomAD v4: 2-237334783-G-T
• MyVariant Identifiers: chr2:g.238243426G>T (hg19) ; chr2:g.237334783G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334783G>T , CM000664.2:g.237334783G>T	GRCh38
NC_000002.11:g.238243426G>T , CM000664.1:g.238243426G>T	GRCh37
NC_000002.10:g.237908165G>T	NCBI36
NG_008676.1:g.84425C>A , LRG_473:g.84425C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.1611-1235C>A
ENST00000353578.9:c.8454C>A	ENSP00000315873.4:p.Val2818=
ENST00000682957.1:c.1199C>A
ENST00000295550.9:c.9072C>A MANE Select	ENSP00000295550.4:p.Val3024=
ENST00000295550.8:c.9072C>A	ENSP00000295550.4:p.Val3024=
ENST00000347401.7:c.7248C>A	ENSP00000315609.4:p.Val2416=
ENST00000353578.8:c.8454C>A	ENSP00000315873.4:p.Val2818=
ENST00000409809.5:c.8454C>A	ENSP00000386844.1:p.Val2818=
ENST00000472056.5:c.7251C>A	ENSP00000418285.1:p.Val2417=
ENST00000491769.1:n.5514C>A
ENST00000493608.1:n.4C>A
NM_004369.3:c.9072C>A , LRG_473t1:c.9072C>A	NP_004360.2:p.Val3024=
NM_057166.4:c.7251C>A	NP_476507.3:p.Val2417=
NM_057167.3:c.8454C>A	NP_476508.2:p.Val2818=
XM_005246065.1:c.8472C>A	XP_005246122.1:p.Val2824=
XM_005246066.1:c.7851C>A	XP_005246123.1:p.Val2617=
XM_006712253.1:c.8571C>A	XP_006712316.1:p.Val2857=
XM_011510574.1:c.9069C>A	XP_011508876.1:p.Val3023=
XM_011510575.1:c.6666C>A	XP_011508877.1:p.Val2222=
XM_017003304.1:c.6666C>A	XP_016858793.1:p.Val2222=
XM_024452684.1:c.7851C>A	XP_024308452.1:p.Val2617=
NM_004369.4:c.9072C>A MANE Select	NP_004360.2:p.Val3024=
NM_057166.5:c.7251C>A	NP_476507.3:p.Val2417=
NM_057167.4:c.8454C>A	NP_476508.2:p.Val2818=