Canonical Allele Identifier: CA351191799

Gene: COL6A3

Linked Data

• dbSNP Id: rs1700548815
• gnomAD v3: 2-237336392-G-T
• gnomAD v4: 2-237336392-G-T
• MyVariant Identifiers: chr2:g.238245035G>T (hg19) ; chr2:g.237336392G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336392G>T , CM000664.2:g.237336392G>T	GRCh38
NC_000002.11:g.238245035G>T , CM000664.1:g.238245035G>T	GRCh37
NC_000002.10:g.237909774G>T	NCBI36
NG_008676.1:g.82816C>A , LRG_473:g.82816C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1353C>A
ENST00000353578.9:c.8090C>A	ENSP00000315873.4:p.Pro2697Gln
ENST00000682957.1:c.835C>A
ENST00000684508.1:n.975C>A
ENST00000295550.9:c.8708C>A MANE Select	ENSP00000295550.4:p.Pro2903Gln
ENST00000295550.8:c.8708C>A	ENSP00000295550.4:p.Pro2903Gln
ENST00000347401.7:c.6884C>A	ENSP00000315609.4:p.Pro2295Gln
ENST00000353578.8:c.8090C>A	ENSP00000315873.4:p.Pro2697Gln
ENST00000409809.5:c.8090C>A	ENSP00000386844.1:p.Pro2697Gln
ENST00000472056.5:c.6887C>A	ENSP00000418285.1:p.Pro2296Gln
ENST00000491769.1:n.5150C>A
NM_004369.3:c.8708C>A , LRG_473t1:c.8708C>A	NP_004360.2:p.Pro2903Gln
NM_057166.4:c.6887C>A	NP_476507.3:p.Pro2296Gln
NM_057167.3:c.8090C>A	NP_476508.2:p.Pro2697Gln
XM_005246065.1:c.8108C>A	XP_005246122.1:p.Pro2703Gln
XM_005246066.1:c.7487C>A	XP_005246123.1:p.Pro2496Gln
XM_006712253.1:c.8207C>A	XP_006712316.1:p.Pro2736Gln
XM_011510574.1:c.8705C>A	XP_011508876.1:p.Pro2902Gln
XM_011510575.1:c.6302C>A	XP_011508877.1:p.Pro2101Gln
XM_017003304.1:c.6302C>A	XP_016858793.1:p.Pro2101Gln
XM_024452684.1:c.7487C>A	XP_024308452.1:p.Pro2496Gln
NM_004369.4:c.8708C>A MANE Select	NP_004360.2:p.Pro2903Gln
NM_057166.5:c.6887C>A	NP_476507.3:p.Pro2296Gln
NM_057167.4:c.8090C>A	NP_476508.2:p.Pro2697Gln