Canonical Allele Identifier: CA2187772

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 2846478
• ClinVar RCV Id: RCV003632047
• dbSNP Id: rs540777771
• ExAC: 2:238253072 A / G
• gnomAD v2: 2-238253072-A-G
• gnomAD v3: 2-237344429-A-G
• gnomAD v4: 2-237344429-A-G
• MyVariant Identifiers: chr2:g.238253072A>G (hg19) ; chr2:g.237344429A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344429A>G , CM000664.2:g.237344429A>G	GRCh38
NC_000002.11:g.238253072A>G , CM000664.1:g.238253072A>G	GRCh37
NC_000002.10:g.237917811A>G	NCBI36
NG_008676.1:g.74779T>C , LRG_473:g.74779T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.234T>C
ENST00000353578.9:c.6971T>C	ENSP00000315873.4:p.Val2324Ala
ENST00000295550.9:c.7589T>C MANE Select	ENSP00000295550.4:p.Val2530Ala
ENST00000295550.8:c.7589T>C	ENSP00000295550.4:p.Val2530Ala
ENST00000347401.7:c.5765T>C	ENSP00000315609.4:p.Val1922Ala
ENST00000353578.8:c.6971T>C	ENSP00000315873.4:p.Val2324Ala
ENST00000409809.5:c.6971T>C	ENSP00000386844.1:p.Val2324Ala
ENST00000472056.5:c.5768T>C	ENSP00000418285.1:p.Val1923Ala
ENST00000491769.1:n.1843T>C
NM_004369.3:c.7589T>C , LRG_473t1:c.7589T>C	NP_004360.2:p.Val2530Ala
NM_057166.4:c.5768T>C	NP_476507.3:p.Val1923Ala
NM_057167.3:c.6971T>C	NP_476508.2:p.Val2324Ala
XM_005246065.1:c.6989T>C	XP_005246122.1:p.Val2330Ala
XM_005246066.1:c.6368T>C	XP_005246123.1:p.Val2123Ala
XM_006712253.1:c.7088T>C	XP_006712316.1:p.Val2363Ala
XM_011510574.1:c.7586T>C	XP_011508876.1:p.Val2529Ala
XM_011510575.1:c.5183T>C	XP_011508877.1:p.Val1728Ala
XM_017003304.1:c.5183T>C	XP_016858793.1:p.Val1728Ala
XM_024452684.1:c.6368T>C	XP_024308452.1:p.Val2123Ala
NM_004369.4:c.7589T>C MANE Select	NP_004360.2:p.Val2530Ala
NM_057166.5:c.5768T>C	NP_476507.3:p.Val1923Ala
NM_057167.4:c.6971T>C	NP_476508.2:p.Val2324Ala