Canonical Allele Identifier: CA2187414

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 706899
• ClinVar RCV Id: RCV002540030
• dbSNP Id: rs201605617
• ExAC: 2:238244836 G / A
• gnomAD v2: 2-238244836-G-A
• gnomAD v3: 2-237336193-G-A
• gnomAD v4: 2-237336193-G-A
• MyVariant Identifiers: chr2:g.238244836G>A (hg19) ; chr2:g.237336193G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336193G>A , CM000664.2:g.237336193G>A	GRCh38
NC_000002.11:g.238244836G>A , CM000664.1:g.238244836G>A	GRCh37
NC_000002.10:g.237909575G>A	NCBI36
NG_008676.1:g.83015C>T , LRG_473:g.83015C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1552C>T
ENST00000353578.9:c.8289C>T	ENSP00000315873.4:p.Val2763=
ENST00000682957.1:c.1034C>T
ENST00000684508.1:n.1174C>T
ENST00000295550.9:c.8907C>T MANE Select	ENSP00000295550.4:p.Val2969=
ENST00000295550.8:c.8907C>T	ENSP00000295550.4:p.Val2969=
ENST00000347401.7:c.7083C>T	ENSP00000315609.4:p.Val2361=
ENST00000353578.8:c.8289C>T	ENSP00000315873.4:p.Val2763=
ENST00000409809.5:c.8289C>T	ENSP00000386844.1:p.Val2763=
ENST00000472056.5:c.7086C>T	ENSP00000418285.1:p.Val2362=
ENST00000491769.1:n.5349C>T
NM_004369.3:c.8907C>T , LRG_473t1:c.8907C>T	NP_004360.2:p.Val2969=
NM_057166.4:c.7086C>T	NP_476507.3:p.Val2362=
NM_057167.3:c.8289C>T	NP_476508.2:p.Val2763=
XM_005246065.1:c.8307C>T	XP_005246122.1:p.Val2769=
XM_005246066.1:c.7686C>T	XP_005246123.1:p.Val2562=
XM_006712253.1:c.8406C>T	XP_006712316.1:p.Val2802=
XM_011510574.1:c.8904C>T	XP_011508876.1:p.Val2968=
XM_011510575.1:c.6501C>T	XP_011508877.1:p.Val2167=
XM_017003304.1:c.6501C>T	XP_016858793.1:p.Val2167=
XM_024452684.1:c.7686C>T	XP_024308452.1:p.Val2562=
NM_004369.4:c.8907C>T MANE Select	NP_004360.2:p.Val2969=
NM_057166.5:c.7086C>T	NP_476507.3:p.Val2362=
NM_057167.4:c.8289C>T	NP_476508.2:p.Val2763=