Canonical Allele Identifier: CA2188394

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 894824
• ClinVar RCV Id: RCV001136580
• dbSNP Id: rs775641801
• ExAC: 2:238268779 C / T
• gnomAD v2: 2-238268779-C-T
• gnomAD v3: 2-237360136-C-T
• gnomAD v4: 2-237360136-C-T
• MyVariant Identifiers: chr2:g.238268779C>T (hg19) ; chr2:g.237360136C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237360136C>T , CM000664.2:g.237360136C>T	GRCh38
NC_000002.11:g.238268779C>T , CM000664.1:g.238268779C>T	GRCh37
NC_000002.10:g.237933518C>T	NCBI36
NG_008676.1:g.59072G>A , LRG_473:g.59072G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.5616G>A	ENSP00000315873.4:p.Val1872=
ENST00000295550.9:c.6234G>A MANE Select	ENSP00000295550.4:p.Val2078=
ENST00000295550.8:c.6234G>A	ENSP00000295550.4:p.Val2078=
ENST00000347401.7:c.4413G>A	ENSP00000315609.4:p.Val1471=
ENST00000353578.8:c.5616G>A	ENSP00000315873.4:p.Val1872=
ENST00000409809.5:c.5616G>A	ENSP00000386844.1:p.Val1872=
ENST00000472056.5:c.4413G>A	ENSP00000418285.1:p.Val1471=
NM_004369.3:c.6234G>A , LRG_473t1:c.6234G>A	NP_004360.2:p.Val2078=
NM_057166.4:c.4413G>A	NP_476507.3:p.Val1471=
NM_057167.3:c.5616G>A	NP_476508.2:p.Val1872=
XM_005246065.1:c.5634G>A	XP_005246122.1:p.Val1878=
XM_005246066.1:c.5013G>A	XP_005246123.1:p.Val1671=
XM_006712253.1:c.5733G>A	XP_006712316.1:p.Val1911=
XM_011510574.1:c.6231G>A	XP_011508876.1:p.Val2077=
XM_011510575.1:c.3828G>A	XP_011508877.1:p.Val1276=
XM_017003304.1:c.3828G>A	XP_016858793.1:p.Val1276=
XM_024452684.1:c.5013G>A	XP_024308452.1:p.Val1671=
NM_004369.4:c.6234G>A MANE Select	NP_004360.2:p.Val2078=
NM_057166.5:c.4413G>A	NP_476507.3:p.Val1471=
NM_057167.4:c.5616G>A	NP_476508.2:p.Val1872=