Canonical Allele Identifier: CA431675124

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 444556
• ClinVar RCV Id: RCV000513280
• dbSNP Id: rs1553546085
• MyVariant Identifiers: chr2:g.238249162G>A (hg19) ; chr2:g.237340519G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340519G>A , CM000664.2:g.237340519G>A	GRCh38
NC_000002.11:g.238249162G>A , CM000664.1:g.238249162G>A	GRCh37
NC_000002.10:g.237913901G>A	NCBI36
NG_008676.1:g.78689C>T , LRG_473:g.78689C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1042C>T
ENST00000353578.9:c.7779C>T	ENSP00000315873.4:p.Asp2593=
ENST00000682957.1:c.400C>T
ENST00000684508.1:n.664C>T
ENST00000295550.9:c.8397C>T MANE Select	ENSP00000295550.4:p.Asp2799=
ENST00000295550.8:c.8397C>T	ENSP00000295550.4:p.Asp2799=
ENST00000347401.7:c.6573C>T	ENSP00000315609.4:p.Asp2191=
ENST00000353578.8:c.7779C>T	ENSP00000315873.4:p.Asp2593=
ENST00000409809.5:c.7779C>T	ENSP00000386844.1:p.Asp2593=
ENST00000468792.1:n.84C>T
ENST00000472056.5:c.6576C>T	ENSP00000418285.1:p.Asp2192=
ENST00000491769.1:n.4839C>T
NM_004369.3:c.8397C>T , LRG_473t1:c.8397C>T	NP_004360.2:p.Asp2799=
NM_057166.4:c.6576C>T	NP_476507.3:p.Asp2192=
NM_057167.3:c.7779C>T	NP_476508.2:p.Asp2593=
XM_005246065.1:c.7797C>T	XP_005246122.1:p.Asp2599=
XM_005246066.1:c.7176C>T	XP_005246123.1:p.Asp2392=
XM_006712253.1:c.7896C>T	XP_006712316.1:p.Asp2632=
XM_011510574.1:c.8394C>T	XP_011508876.1:p.Asp2798=
XM_011510575.1:c.5991C>T	XP_011508877.1:p.Asp1997=
XM_017003304.1:c.5991C>T	XP_016858793.1:p.Asp1997=
XM_024452684.1:c.7176C>T	XP_024308452.1:p.Asp2392=
NM_004369.4:c.8397C>T MANE Select	NP_004360.2:p.Asp2799=
NM_057166.5:c.6576C>T	NP_476507.3:p.Asp2192=
NM_057167.4:c.7779C>T	NP_476508.2:p.Asp2593=