Canonical Allele Identifier: CA431710302

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 2694860
• ClinVar RCV Id: RCV003517562
• dbSNP Id: rs1431631518
• gnomAD v4: 2-237344434-C-T
• MyVariant Identifiers: chr2:g.238253077C>T (hg19) ; chr2:g.237344434C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344434C>T , CM000664.2:g.237344434C>T	GRCh38
NC_000002.11:g.238253077C>T , CM000664.1:g.238253077C>T	GRCh37
NC_000002.10:g.237917816C>T	NCBI36
NG_008676.1:g.74774G>A , LRG_473:g.74774G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.229G>A
ENST00000353578.9:c.6966G>A	ENSP00000315873.4:p.Glu2322=
ENST00000295550.9:c.7584G>A MANE Select	ENSP00000295550.4:p.Glu2528=
ENST00000295550.8:c.7584G>A	ENSP00000295550.4:p.Glu2528=
ENST00000347401.7:c.5760G>A	ENSP00000315609.4:p.Glu1920=
ENST00000353578.8:c.6966G>A	ENSP00000315873.4:p.Glu2322=
ENST00000409809.5:c.6966G>A	ENSP00000386844.1:p.Glu2322=
ENST00000472056.5:c.5763G>A	ENSP00000418285.1:p.Glu1921=
ENST00000491769.1:n.1838G>A
NM_004369.3:c.7584G>A , LRG_473t1:c.7584G>A	NP_004360.2:p.Glu2528=
NM_057166.4:c.5763G>A	NP_476507.3:p.Glu1921=
NM_057167.3:c.6966G>A	NP_476508.2:p.Glu2322=
XM_005246065.1:c.6984G>A	XP_005246122.1:p.Glu2328=
XM_005246066.1:c.6363G>A	XP_005246123.1:p.Glu2121=
XM_006712253.1:c.7083G>A	XP_006712316.1:p.Glu2361=
XM_011510574.1:c.7581G>A	XP_011508876.1:p.Glu2527=
XM_011510575.1:c.5178G>A	XP_011508877.1:p.Glu1726=
XM_017003304.1:c.5178G>A	XP_016858793.1:p.Glu1726=
XM_024452684.1:c.6363G>A	XP_024308452.1:p.Glu2121=
NM_004369.4:c.7584G>A MANE Select	NP_004360.2:p.Glu2528=
NM_057166.5:c.5763G>A	NP_476507.3:p.Glu1921=
NM_057167.4:c.6966G>A	NP_476508.2:p.Glu2322=