Canonical Allele Identifier: CA275050

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 194849
• ClinVar RCV Id: RCV000175313 ; RCV002516670
• dbSNP Id: rs794727206
• MyVariant Identifiers: chr2:g.238268021C>A (hg19) ; chr2:g.237359378C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237359378C>A , CM000664.2:g.237359378C>A	GRCh38
NC_000002.11:g.238268021C>A , CM000664.1:g.238268021C>A	GRCh37
NC_000002.10:g.237932760C>A	NCBI36
NG_008676.1:g.59830G>T , LRG_473:g.59830G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.5675G>T	ENSP00000315873.4:p.Gly1892Val
ENST00000295550.9:c.6293G>T MANE Select	ENSP00000295550.4:p.Gly2098Val
ENST00000295550.8:c.6293G>T	ENSP00000295550.4:p.Gly2098Val
ENST00000347401.7:c.4472G>T	ENSP00000315609.4:p.Gly1491Val
ENST00000353578.8:c.5675G>T	ENSP00000315873.4:p.Gly1892Val
ENST00000409809.5:c.5675G>T	ENSP00000386844.1:p.Gly1892Val
ENST00000472056.5:c.4472G>T	ENSP00000418285.1:p.Gly1491Val
NM_004369.3:c.6293G>T , LRG_473t1:c.6293G>T	NP_004360.2:p.Gly2098Val
NM_057166.4:c.4472G>T	NP_476507.3:p.Gly1491Val
NM_057167.3:c.5675G>T	NP_476508.2:p.Gly1892Val
XM_005246065.1:c.5693G>T	XP_005246122.1:p.Gly1898Val
XM_005246066.1:c.5072G>T	XP_005246123.1:p.Gly1691Val
XM_006712253.1:c.5792G>T	XP_006712316.1:p.Gly1931Val
XM_011510574.1:c.6290G>T	XP_011508876.1:p.Gly2097Val
XM_011510575.1:c.3887G>T	XP_011508877.1:p.Gly1296Val
XM_017003304.1:c.3887G>T	XP_016858793.1:p.Gly1296Val
XM_024452684.1:c.5072G>T	XP_024308452.1:p.Gly1691Val
NM_004369.4:c.6293G>T MANE Select	NP_004360.2:p.Gly2098Val
NM_057166.5:c.4472G>T	NP_476507.3:p.Gly1491Val
NM_057167.4:c.5675G>T	NP_476508.2:p.Gly1892Val