Canonical Allele Identifier: CA431710740

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238275634C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237366991C>A , CM000664.2:g.237366991C>A	GRCh38
NC_000002.11:g.238275634C>A , CM000664.1:g.238275634C>A	GRCh37
NC_000002.10:g.237940373C>A	NCBI36
NG_008676.1:g.52217G>T , LRG_473:g.52217G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.4578G>T	ENSP00000315873.4:p.Val1526=
ENST00000295550.9:c.5196G>T MANE Select	ENSP00000295550.4:p.Val1732=
ENST00000295550.8:c.5196G>T	ENSP00000295550.4:p.Val1732=
ENST00000347401.7:c.3375G>T	ENSP00000315609.4:p.Val1125=
ENST00000353578.8:c.4578G>T	ENSP00000315873.4:p.Val1526=
ENST00000409809.5:c.4578G>T	ENSP00000386844.1:p.Val1526=
ENST00000472056.5:c.3375G>T	ENSP00000418285.1:p.Val1125=
NM_004369.3:c.5196G>T , LRG_473t1:c.5196G>T	NP_004360.2:p.Val1732=
NM_057166.4:c.3375G>T	NP_476507.3:p.Val1125=
NM_057167.3:c.4578G>T	NP_476508.2:p.Val1526=
XM_005246065.1:c.4596G>T	XP_005246122.1:p.Val1532=
XM_005246066.1:c.3975G>T	XP_005246123.1:p.Val1325=
XM_006712253.1:c.4695G>T	XP_006712316.1:p.Val1565=
XM_011510574.1:c.5193G>T	XP_011508876.1:p.Val1731=
XM_011510575.1:c.2790G>T	XP_011508877.1:p.Val930=
XM_017003304.1:c.2790G>T	XP_016858793.1:p.Val930=
XM_024452684.1:c.3975G>T	XP_024308452.1:p.Val1325=
NM_004369.4:c.5196G>T MANE Select	NP_004360.2:p.Val1732=
NM_057166.5:c.3375G>T	NP_476507.3:p.Val1125=
NM_057167.4:c.4578G>T	NP_476508.2:p.Val1526=