Canonical Allele Identifier: CA351216598
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 426588
ClinVar RCV Id: RCV000489274
dbSNP Id: rs1085307697
MyVariant Identifiers: chr2:g.238268765C>A (hg19) chr2:g.237360122C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237360122C>A , CM000664.2:g.237360122C>A GRCh38
NC_000002.11:g.238268765C>A , CM000664.1:g.238268765C>A GRCh37
NC_000002.10:g.237933504C>A NCBI36
NG_008676.1:g.59086G>T , LRG_473:g.59086G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000353578.9:c.5630G>T ENSP00000315873.4:p.Gly1877Val
ENST00000295550.9:c.6248G>T MANE Select ENSP00000295550.4:p.Gly2083Val
ENST00000295550.8:c.6248G>T ENSP00000295550.4:p.Gly2083Val
ENST00000347401.7:c.4427G>T ENSP00000315609.4:p.Gly1476Val
ENST00000353578.8:c.5630G>T ENSP00000315873.4:p.Gly1877Val
ENST00000409809.5:c.5630G>T ENSP00000386844.1:p.Gly1877Val
ENST00000472056.5:c.4427G>T ENSP00000418285.1:p.Gly1476Val
NM_004369.3:c.6248G>T , LRG_473t1:c.6248G>T NP_004360.2:p.Gly2083Val
NM_057166.4:c.4427G>T NP_476507.3:p.Gly1476Val
NM_057167.3:c.5630G>T NP_476508.2:p.Gly1877Val
XM_005246065.1:c.5648G>T XP_005246122.1:p.Gly1883Val
XM_005246066.1:c.5027G>T XP_005246123.1:p.Gly1676Val
XM_006712253.1:c.5747G>T XP_006712316.1:p.Gly1916Val
XM_011510574.1:c.6245G>T XP_011508876.1:p.Gly2082Val
XM_011510575.1:c.3842G>T XP_011508877.1:p.Gly1281Val
XM_017003304.1:c.3842G>T XP_016858793.1:p.Gly1281Val
XM_024452684.1:c.5027G>T XP_024308452.1:p.Gly1676Val
NM_004369.4:c.6248G>T MANE Select NP_004360.2:p.Gly2083Val
NM_057166.5:c.4427G>T NP_476507.3:p.Gly1476Val
NM_057167.4:c.5630G>T NP_476508.2:p.Gly1877Val
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