Canonical Allele Identifier: CA351191189

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 942711
• ClinVar RCV Id: RCV001212744
• dbSNP Id: rs1287394484
• gnomAD v3: 2-237336230-G-A
• gnomAD v4: 2-237336230-G-A
• MyVariant Identifiers: chr2:g.238244873G>A (hg19) ; chr2:g.237336230G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336230G>A , CM000664.2:g.237336230G>A	GRCh38
NC_000002.11:g.238244873G>A , CM000664.1:g.238244873G>A	GRCh37
NC_000002.10:g.237909612G>A	NCBI36
NG_008676.1:g.82978C>T , LRG_473:g.82978C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1515C>T
ENST00000353578.9:c.8252C>T	ENSP00000315873.4:p.Ala2751Val
ENST00000682957.1:c.997C>T
ENST00000684508.1:n.1137C>T
ENST00000295550.9:c.8870C>T MANE Select	ENSP00000295550.4:p.Ala2957Val
ENST00000295550.8:c.8870C>T	ENSP00000295550.4:p.Ala2957Val
ENST00000347401.7:c.7046C>T	ENSP00000315609.4:p.Ala2349Val
ENST00000353578.8:c.8252C>T	ENSP00000315873.4:p.Ala2751Val
ENST00000409809.5:c.8252C>T	ENSP00000386844.1:p.Ala2751Val
ENST00000472056.5:c.7049C>T	ENSP00000418285.1:p.Ala2350Val
ENST00000491769.1:n.5312C>T
NM_004369.3:c.8870C>T , LRG_473t1:c.8870C>T	NP_004360.2:p.Ala2957Val
NM_057166.4:c.7049C>T	NP_476507.3:p.Ala2350Val
NM_057167.3:c.8252C>T	NP_476508.2:p.Ala2751Val
XM_005246065.1:c.8270C>T	XP_005246122.1:p.Ala2757Val
XM_005246066.1:c.7649C>T	XP_005246123.1:p.Ala2550Val
XM_006712253.1:c.8369C>T	XP_006712316.1:p.Ala2790Val
XM_011510574.1:c.8867C>T	XP_011508876.1:p.Ala2956Val
XM_011510575.1:c.6464C>T	XP_011508877.1:p.Ala2155Val
XM_017003304.1:c.6464C>T	XP_016858793.1:p.Ala2155Val
XM_024452684.1:c.7649C>T	XP_024308452.1:p.Ala2550Val
NM_004369.4:c.8870C>T MANE Select	NP_004360.2:p.Ala2957Val
NM_057166.5:c.7049C>T	NP_476507.3:p.Ala2350Val
NM_057167.4:c.8252C>T	NP_476508.2:p.Ala2751Val