Canonical Allele Identifier: CA351216622

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 573924
• ClinVar RCV Id: RCV000695722
• dbSNP Id: rs1364892747
• gnomAD v3: 2-237360128-G-C
• gnomAD v4: 2-237360128-G-C
• MyVariant Identifiers: chr2:g.238268771G>C (hg19) ; chr2:g.237360128G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237360128G>C , CM000664.2:g.237360128G>C	GRCh38
NC_000002.11:g.238268771G>C , CM000664.1:g.238268771G>C	GRCh37
NC_000002.10:g.237933510G>C	NCBI36
NG_008676.1:g.59080C>G , LRG_473:g.59080C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.5624C>G	ENSP00000315873.4:p.Thr1875Ser
ENST00000295550.9:c.6242C>G MANE Select	ENSP00000295550.4:p.Thr2081Ser
ENST00000295550.8:c.6242C>G	ENSP00000295550.4:p.Thr2081Ser
ENST00000347401.7:c.4421C>G	ENSP00000315609.4:p.Thr1474Ser
ENST00000353578.8:c.5624C>G	ENSP00000315873.4:p.Thr1875Ser
ENST00000409809.5:c.5624C>G	ENSP00000386844.1:p.Thr1875Ser
ENST00000472056.5:c.4421C>G	ENSP00000418285.1:p.Thr1474Ser
NM_004369.3:c.6242C>G , LRG_473t1:c.6242C>G	NP_004360.2:p.Thr2081Ser
NM_057166.4:c.4421C>G	NP_476507.3:p.Thr1474Ser
NM_057167.3:c.5624C>G	NP_476508.2:p.Thr1875Ser
XM_005246065.1:c.5642C>G	XP_005246122.1:p.Thr1881Ser
XM_005246066.1:c.5021C>G	XP_005246123.1:p.Thr1674Ser
XM_006712253.1:c.5741C>G	XP_006712316.1:p.Thr1914Ser
XM_011510574.1:c.6239C>G	XP_011508876.1:p.Thr2080Ser
XM_011510575.1:c.3836C>G	XP_011508877.1:p.Thr1279Ser
XM_017003304.1:c.3836C>G	XP_016858793.1:p.Thr1279Ser
XM_024452684.1:c.5021C>G	XP_024308452.1:p.Thr1674Ser
NM_004369.4:c.6242C>G MANE Select	NP_004360.2:p.Thr2081Ser
NM_057166.5:c.4421C>G	NP_476507.3:p.Thr1474Ser
NM_057167.4:c.5624C>G	NP_476508.2:p.Thr1875Ser