Canonical Allele Identifier: CA351203731

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 476555
• ClinVar RCV Id: RCV000559787
• dbSNP Id: rs895701604
• MyVariant Identifiers: chr2:g.238253330C>G (hg19) ; chr2:g.237344687C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344687C>G , CM000664.2:g.237344687C>G	GRCh38
NC_000002.11:g.238253330C>G , CM000664.1:g.238253330C>G	GRCh37
NC_000002.10:g.237918069C>G	NCBI36
NG_008676.1:g.74521G>C , LRG_473:g.74521G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.6713G>C	ENSP00000315873.4:p.Arg2238Pro
ENST00000295550.9:c.7331G>C MANE Select	ENSP00000295550.4:p.Arg2444Pro
ENST00000295550.8:c.7331G>C	ENSP00000295550.4:p.Arg2444Pro
ENST00000347401.7:c.5507G>C	ENSP00000315609.4:p.Arg1836Pro
ENST00000353578.8:c.6713G>C	ENSP00000315873.4:p.Arg2238Pro
ENST00000409809.5:c.6713G>C	ENSP00000386844.1:p.Arg2238Pro
ENST00000472056.5:c.5510G>C	ENSP00000418285.1:p.Arg1837Pro
ENST00000491769.1:n.1585G>C
NM_004369.3:c.7331G>C , LRG_473t1:c.7331G>C	NP_004360.2:p.Arg2444Pro
NM_057166.4:c.5510G>C	NP_476507.3:p.Arg1837Pro
NM_057167.3:c.6713G>C	NP_476508.2:p.Arg2238Pro
XM_005246065.1:c.6731G>C	XP_005246122.1:p.Arg2244Pro
XM_005246066.1:c.6110G>C	XP_005246123.1:p.Arg2037Pro
XM_006712253.1:c.6830G>C	XP_006712316.1:p.Arg2277Pro
XM_011510574.1:c.7328G>C	XP_011508876.1:p.Arg2443Pro
XM_011510575.1:c.4925G>C	XP_011508877.1:p.Arg1642Pro
XM_017003304.1:c.4925G>C	XP_016858793.1:p.Arg1642Pro
XM_024452684.1:c.6110G>C	XP_024308452.1:p.Arg2037Pro
NM_004369.4:c.7331G>C MANE Select	NP_004360.2:p.Arg2444Pro
NM_057166.5:c.5510G>C	NP_476507.3:p.Arg1837Pro
NM_057167.4:c.6713G>C	NP_476508.2:p.Arg2238Pro