Canonical Allele Identifier: CA10602841
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 280028
ClinVar RCV Id: RCV000334260 RCV001059032
dbSNP Id: rs886041329
COSMIC: COSM3782149
MyVariant Identifiers: chr2:g.238269816C>A (hg19) chr2:g.237361173C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237361173C>A , CM000664.2:g.237361173C>A GRCh38
NC_000002.11:g.238269816C>A , CM000664.1:g.238269816C>A GRCh37
NC_000002.10:g.237934555C>A NCBI36
NG_008676.1:g.58035G>T , LRG_473:g.58035G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000353578.9:c.5540G>T ENSP00000315873.4:p.Gly1847Val
ENST00000295550.9:c.6158G>T MANE Select ENSP00000295550.4:p.Gly2053Val
ENST00000295550.8:c.6158G>T ENSP00000295550.4:p.Gly2053Val
ENST00000347401.7:c.4337G>T ENSP00000315609.4:p.Gly1446Val
ENST00000353578.8:c.5540G>T ENSP00000315873.4:p.Gly1847Val
ENST00000409809.5:c.5540G>T ENSP00000386844.1:p.Gly1847Val
ENST00000472056.5:c.4337G>T ENSP00000418285.1:p.Gly1446Val
NM_004369.3:c.6158G>T , LRG_473t1:c.6158G>T NP_004360.2:p.Gly2053Val
NM_057166.4:c.4337G>T NP_476507.3:p.Gly1446Val
NM_057167.3:c.5540G>T NP_476508.2:p.Gly1847Val
XM_005246065.1:c.5558G>T XP_005246122.1:p.Gly1853Val
XM_005246066.1:c.4937G>T XP_005246123.1:p.Gly1646Val
XM_006712253.1:c.5657G>T XP_006712316.1:p.Gly1886Val
XM_011510574.1:c.6155G>T XP_011508876.1:p.Gly2052Val
XM_011510575.1:c.3752G>T XP_011508877.1:p.Gly1251Val
XM_017003304.1:c.3752G>T XP_016858793.1:p.Gly1251Val
XM_024452684.1:c.4937G>T XP_024308452.1:p.Gly1646Val
NM_004369.4:c.6158G>T MANE Select NP_004360.2:p.Gly2053Val
NM_057166.5:c.4337G>T NP_476507.3:p.Gly1446Val
NM_057167.4:c.5540G>T NP_476508.2:p.Gly1847Val
Search 100 bp 5'
Search 100 bp 3'