Canonical Allele Identifier: CA351195704

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 1394577
• ClinVar RCV Id: RCV001898565
• dbSNP Id: rs770586429
• gnomAD v2: 2-238249295-G-A
• gnomAD v4: 2-237340652-G-A
• MyVariant Identifiers: chr2:g.238249295G>A (hg19) ; chr2:g.237340652G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340652G>A , CM000664.2:g.237340652G>A	GRCh38
NC_000002.11:g.238249295G>A , CM000664.1:g.238249295G>A	GRCh37
NC_000002.10:g.237914034G>A	NCBI36
NG_008676.1:g.78556C>T , LRG_473:g.78556C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.909C>T
ENST00000353578.9:c.7646C>T	ENSP00000315873.4:p.Ala2549Val
ENST00000682957.1:c.267C>T
ENST00000684508.1:n.531C>T
ENST00000295550.9:c.8264C>T MANE Select	ENSP00000295550.4:p.Ala2755Val
ENST00000295550.8:c.8264C>T	ENSP00000295550.4:p.Ala2755Val
ENST00000347401.7:c.6440C>T	ENSP00000315609.4:p.Ala2147Val
ENST00000353578.8:c.7646C>T	ENSP00000315873.4:p.Ala2549Val
ENST00000409809.5:c.7646C>T	ENSP00000386844.1:p.Ala2549Val
ENST00000472056.5:c.6443C>T	ENSP00000418285.1:p.Ala2148Val
ENST00000491769.1:n.4706C>T
NM_004369.3:c.8264C>T , LRG_473t1:c.8264C>T	NP_004360.2:p.Ala2755Val
NM_057166.4:c.6443C>T	NP_476507.3:p.Ala2148Val
NM_057167.3:c.7646C>T	NP_476508.2:p.Ala2549Val
XM_005246065.1:c.7664C>T	XP_005246122.1:p.Ala2555Val
XM_005246066.1:c.7043C>T	XP_005246123.1:p.Ala2348Val
XM_006712253.1:c.7763C>T	XP_006712316.1:p.Ala2588Val
XM_011510574.1:c.8261C>T	XP_011508876.1:p.Ala2754Val
XM_011510575.1:c.5858C>T	XP_011508877.1:p.Ala1953Val
XM_017003304.1:c.5858C>T	XP_016858793.1:p.Ala1953Val
XM_024452684.1:c.7043C>T	XP_024308452.1:p.Ala2348Val
NM_004369.4:c.8264C>T MANE Select	NP_004360.2:p.Ala2755Val
NM_057166.5:c.6443C>T	NP_476507.3:p.Ala2148Val
NM_057167.4:c.7646C>T	NP_476508.2:p.Ala2549Val