Canonical Allele Identifier: CA431701593

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238244941C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336298C>G , CM000664.2:g.237336298C>G	GRCh38
NC_000002.11:g.238244941C>G , CM000664.1:g.238244941C>G	GRCh37
NC_000002.10:g.237909680C>G	NCBI36
NG_008676.1:g.82910G>C , LRG_473:g.82910G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1447G>C
ENST00000353578.9:c.8184G>C	ENSP00000315873.4:p.Val2728=
ENST00000682957.1:c.929G>C
ENST00000684508.1:n.1069G>C
ENST00000295550.9:c.8802G>C MANE Select	ENSP00000295550.4:p.Val2934=
ENST00000295550.8:c.8802G>C	ENSP00000295550.4:p.Val2934=
ENST00000347401.7:c.6978G>C	ENSP00000315609.4:p.Val2326=
ENST00000353578.8:c.8184G>C	ENSP00000315873.4:p.Val2728=
ENST00000409809.5:c.8184G>C	ENSP00000386844.1:p.Val2728=
ENST00000472056.5:c.6981G>C	ENSP00000418285.1:p.Val2327=
ENST00000491769.1:n.5244G>C
NM_004369.3:c.8802G>C , LRG_473t1:c.8802G>C	NP_004360.2:p.Val2934=
NM_057166.4:c.6981G>C	NP_476507.3:p.Val2327=
NM_057167.3:c.8184G>C	NP_476508.2:p.Val2728=
XM_005246065.1:c.8202G>C	XP_005246122.1:p.Val2734=
XM_005246066.1:c.7581G>C	XP_005246123.1:p.Val2527=
XM_006712253.1:c.8301G>C	XP_006712316.1:p.Val2767=
XM_011510574.1:c.8799G>C	XP_011508876.1:p.Val2933=
XM_011510575.1:c.6396G>C	XP_011508877.1:p.Val2132=
XM_017003304.1:c.6396G>C	XP_016858793.1:p.Val2132=
XM_024452684.1:c.7581G>C	XP_024308452.1:p.Val2527=
NM_004369.4:c.8802G>C MANE Select	NP_004360.2:p.Val2934=
NM_057166.5:c.6981G>C	NP_476507.3:p.Val2327=
NM_057167.4:c.8184G>C	NP_476508.2:p.Val2728=