Canonical Allele Identifier: CA431699143

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238243426G>A (hg19)

Genomic Alleles

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

Transcript Alleles

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