Canonical Allele Identifier: CA203744

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 128819
• ClinVar RCV Id: RCV000180594 ; RCV000304466 ; RCV000224823 ; RCV001081946 ; RCV001358668 ; RCV004549581
• dbSNP Id: rs146092501
• ExAC: 2:238280504 C / T
• gnomAD v2: 2-238280504-C-T
• gnomAD v3: 2-237371861-C-T
• gnomAD v4: 2-237371861-C-T
• MyVariant Identifiers: chr2:g.238280504C>T (hg19) ; chr2:g.237371861C>T (hg38)
• PubMed: PMID:15689448 ; PMID:27854218

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237371861C>T , CM000664.2:g.237371861C>T	GRCh38
NC_000002.11:g.238280504C>T , CM000664.1:g.238280504C>T	GRCh37
NC_000002.10:g.237945243C>T	NCBI36
NG_008676.1:g.47347G>A , LRG_473:g.47347G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.3538G>A	ENSP00000315873.4:p.Glu1180Lys
ENST00000295550.9:c.4156G>A MANE Select	ENSP00000295550.4:p.Glu1386Lys
ENST00000295550.8:c.4156G>A	ENSP00000295550.4:p.Glu1386Lys
ENST00000347401.7:c.2335G>A	ENSP00000315609.4:p.Glu779Lys
ENST00000353578.8:c.3538G>A	ENSP00000315873.4:p.Glu1180Lys
ENST00000392003.6:c.2935G>A	ENSP00000375860.2:p.Glu979Lys
ENST00000392004.7:c.3538G>A	ENSP00000375861.3:p.Glu1180Lys
ENST00000409809.5:c.3538G>A	ENSP00000386844.1:p.Glu1180Lys
ENST00000472056.5:c.2335G>A	ENSP00000418285.1:p.Glu779Lys
NM_004369.3:c.4156G>A , LRG_473t1:c.4156G>A	NP_004360.2:p.Glu1386Lys
NM_057164.4:c.2935G>A	NP_476505.3:p.Glu979Lys
NM_057165.4:c.3538G>A	NP_476506.3:p.Glu1180Lys
NM_057166.4:c.2335G>A	NP_476507.3:p.Glu779Lys
NM_057167.3:c.3538G>A	NP_476508.2:p.Glu1180Lys
XM_005246065.1:c.3556G>A	XP_005246122.1:p.Glu1186Lys
XM_005246066.1:c.2935G>A	XP_005246123.1:p.Glu979Lys
XM_006712253.1:c.4156G>A	XP_006712316.1:p.Glu1386Lys
XM_011510574.1:c.4156G>A	XP_011508876.1:p.Glu1386Lys
XM_011510575.1:c.1750G>A	XP_011508877.1:p.Glu584Lys
XM_017003304.1:c.1750G>A	XP_016858793.1:p.Glu584Lys
XM_024452684.1:c.2935G>A	XP_024308452.1:p.Glu979Lys
NM_004369.4:c.4156G>A MANE Select	NP_004360.2:p.Glu1386Lys
NM_057164.5:c.2935G>A	NP_476505.3:p.Glu979Lys
NM_057165.5:c.3538G>A	NP_476506.3:p.Glu1180Lys
NM_057166.5:c.2335G>A	NP_476507.3:p.Glu779Lys
NM_057167.4:c.3538G>A	NP_476508.2:p.Glu1180Lys