Canonical Allele Identifier: CA244931

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 197034
• ClinVar RCV Id: RCV000177942 ; RCV000254307 ; RCV000270502 ; RCV001081264 ; RCV002226459
• dbSNP Id: rs138466455
• ExAC: 2:238249370 G / T
• gnomAD v2: 2-238249370-G-T
• gnomAD v3: 2-237340727-G-T
• gnomAD v4: 2-237340727-G-T
• MyVariant Identifiers: chr2:g.238249370G>T (hg19) ; chr2:g.237340727G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340727G>T , CM000664.2:g.237340727G>T	GRCh38
NC_000002.11:g.238249370G>T , CM000664.1:g.238249370G>T	GRCh37
NC_000002.10:g.237914109G>T	NCBI36
NG_008676.1:g.78481C>A , LRG_473:g.78481C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.834C>A
ENST00000353578.9:c.7571C>A	ENSP00000315873.4:p.Ala2524Asp
ENST00000682957.1:c.192C>A
ENST00000684508.1:n.456C>A
ENST00000295550.9:c.8189C>A MANE Select	ENSP00000295550.4:p.Ala2730Asp
ENST00000295550.8:c.8189C>A	ENSP00000295550.4:p.Ala2730Asp
ENST00000347401.7:c.6365C>A	ENSP00000315609.4:p.Ala2122Asp
ENST00000353578.8:c.7571C>A	ENSP00000315873.4:p.Ala2524Asp
ENST00000409809.5:c.7571C>A	ENSP00000386844.1:p.Ala2524Asp
ENST00000472056.5:c.6368C>A	ENSP00000418285.1:p.Ala2123Asp
ENST00000491769.1:n.4631C>A
NM_004369.3:c.8189C>A , LRG_473t1:c.8189C>A	NP_004360.2:p.Ala2730Asp
NM_057166.4:c.6368C>A	NP_476507.3:p.Ala2123Asp
NM_057167.3:c.7571C>A	NP_476508.2:p.Ala2524Asp
XM_005246065.1:c.7589C>A	XP_005246122.1:p.Ala2530Asp
XM_005246066.1:c.6968C>A	XP_005246123.1:p.Ala2323Asp
XM_006712253.1:c.7688C>A	XP_006712316.1:p.Ala2563Asp
XM_011510574.1:c.8186C>A	XP_011508876.1:p.Ala2729Asp
XM_011510575.1:c.5783C>A	XP_011508877.1:p.Ala1928Asp
XM_017003304.1:c.5783C>A	XP_016858793.1:p.Ala1928Asp
XM_024452684.1:c.6968C>A	XP_024308452.1:p.Ala2323Asp
NM_004369.4:c.8189C>A MANE Select	NP_004360.2:p.Ala2730Asp
NM_057166.5:c.6368C>A	NP_476507.3:p.Ala2123Asp
NM_057167.4:c.7571C>A	NP_476508.2:p.Ala2524Asp