Canonical Allele Identifier: CA148086

Gene: COL6A3

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334821C>G , CM000664.2:g.237334821C>G	GRCh38
NC_000002.11:g.238243464C>G , CM000664.1:g.238243464C>G	GRCh37
NC_000002.10:g.237908203C>G	NCBI36
NG_008676.1:g.84387G>C , LRG_473:g.84387G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1611-1273G>C
ENST00000353578.9:c.8416G>C	ENSP00000315873.4:p.Ala2806Pro
ENST00000682957.1:c.1161G>C
ENST00000295550.9:c.9034G>C MANE Select	ENSP00000295550.4:p.Ala3012Pro
ENST00000295550.8:c.9034G>C	ENSP00000295550.4:p.Ala3012Pro
ENST00000347401.7:c.7210G>C	ENSP00000315609.4:p.Ala2404Pro
ENST00000353578.8:c.8416G>C	ENSP00000315873.4:p.Ala2806Pro
ENST00000409809.5:c.8416G>C	ENSP00000386844.1:p.Ala2806Pro
ENST00000472056.5:c.7213G>C	ENSP00000418285.1:p.Ala2405Pro
ENST00000491769.1:n.5476G>C
NM_004369.3:c.9034G>C , LRG_473t1:c.9034G>C	NP_004360.2:p.Ala3012Pro
NM_057166.4:c.7213G>C	NP_476507.3:p.Ala2405Pro
NM_057167.3:c.8416G>C	NP_476508.2:p.Ala2806Pro
XM_005246065.1:c.8434G>C	XP_005246122.1:p.Ala2812Pro
XM_005246066.1:c.7813G>C	XP_005246123.1:p.Ala2605Pro
XM_006712253.1:c.8533G>C	XP_006712316.1:p.Ala2845Pro
XM_011510574.1:c.9031G>C	XP_011508876.1:p.Ala3011Pro
XM_011510575.1:c.6628G>C	XP_011508877.1:p.Ala2210Pro
XM_017003304.1:c.6628G>C	XP_016858793.1:p.Ala2210Pro
XM_024452684.1:c.7813G>C	XP_024308452.1:p.Ala2605Pro
NM_004369.4:c.9034G>C MANE Select	NP_004360.2:p.Ala3012Pro
NM_057166.5:c.7213G>C	NP_476507.3:p.Ala2405Pro
NM_057167.4:c.8416G>C	NP_476508.2:p.Ala2806Pro