Canonical Allele Identifier: CA10605395

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 286201
• ClinVar RCV Id: RCV000278642
• dbSNP Id: rs886043336
• MyVariant Identifiers: chr2:g.238274657A>C (hg19) ; chr2:g.237366014A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237366014A>C , CM000664.2:g.237366014A>C	GRCh38
NC_000002.11:g.238274657A>C , CM000664.1:g.238274657A>C	GRCh37
NC_000002.10:g.237939396A>C	NCBI36
NG_008676.1:g.53194T>G , LRG_473:g.53194T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000353578.9:c.4904T>G	ENSP00000315873.4:p.Leu1635Arg
ENST00000295550.9:c.5522T>G MANE Select	ENSP00000295550.4:p.Leu1841Arg
ENST00000295550.8:c.5522T>G	ENSP00000295550.4:p.Leu1841Arg
ENST00000347401.7:c.3701T>G	ENSP00000315609.4:p.Leu1234Arg
ENST00000353578.8:c.4904T>G	ENSP00000315873.4:p.Leu1635Arg
ENST00000409809.5:c.4904T>G	ENSP00000386844.1:p.Leu1635Arg
ENST00000472056.5:c.3701T>G	ENSP00000418285.1:p.Leu1234Arg
NM_004369.3:c.5522T>G , LRG_473t1:c.5522T>G	NP_004360.2:p.Leu1841Arg
NM_057166.4:c.3701T>G	NP_476507.3:p.Leu1234Arg
NM_057167.3:c.4904T>G	NP_476508.2:p.Leu1635Arg
XM_005246065.1:c.4922T>G	XP_005246122.1:p.Leu1641Arg
XM_005246066.1:c.4301T>G	XP_005246123.1:p.Leu1434Arg
XM_006712253.1:c.5021T>G	XP_006712316.1:p.Leu1674Arg
XM_011510574.1:c.5519T>G	XP_011508876.1:p.Leu1840Arg
XM_011510575.1:c.3116T>G	XP_011508877.1:p.Leu1039Arg
XM_017003304.1:c.3116T>G	XP_016858793.1:p.Leu1039Arg
XM_024452684.1:c.4301T>G	XP_024308452.1:p.Leu1434Arg
NM_004369.4:c.5522T>G MANE Select	NP_004360.2:p.Leu1841Arg
NM_057166.5:c.3701T>G	NP_476507.3:p.Leu1234Arg
NM_057167.4:c.4904T>G	NP_476508.2:p.Leu1635Arg