Canonical Allele Identifier: CA431674925

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238245142T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336499T>G , CM000664.2:g.237336499T>G	GRCh38
NC_000002.11:g.238245142T>G , CM000664.1:g.238245142T>G	GRCh37
NC_000002.10:g.237909881T>G	NCBI36
NG_008676.1:g.82709A>C , LRG_473:g.82709A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1246A>C
ENST00000353578.9:c.7983A>C	ENSP00000315873.4:p.Thr2661=
ENST00000682957.1:c.728A>C
ENST00000684508.1:n.868A>C
ENST00000295550.9:c.8601A>C MANE Select	ENSP00000295550.4:p.Thr2867=
ENST00000295550.8:c.8601A>C	ENSP00000295550.4:p.Thr2867=
ENST00000347401.7:c.6777A>C	ENSP00000315609.4:p.Thr2259=
ENST00000353578.8:c.7983A>C	ENSP00000315873.4:p.Thr2661=
ENST00000409809.5:c.7983A>C	ENSP00000386844.1:p.Thr2661=
ENST00000472056.5:c.6780A>C	ENSP00000418285.1:p.Thr2260=
ENST00000491769.1:n.5043A>C
NM_004369.3:c.8601A>C , LRG_473t1:c.8601A>C	NP_004360.2:p.Thr2867=
NM_057166.4:c.6780A>C	NP_476507.3:p.Thr2260=
NM_057167.3:c.7983A>C	NP_476508.2:p.Thr2661=
XM_005246065.1:c.8001A>C	XP_005246122.1:p.Thr2667=
XM_005246066.1:c.7380A>C	XP_005246123.1:p.Thr2460=
XM_006712253.1:c.8100A>C	XP_006712316.1:p.Thr2700=
XM_011510574.1:c.8598A>C	XP_011508876.1:p.Thr2866=
XM_011510575.1:c.6195A>C	XP_011508877.1:p.Thr2065=
XM_017003304.1:c.6195A>C	XP_016858793.1:p.Thr2065=
XM_024452684.1:c.7380A>C	XP_024308452.1:p.Thr2460=
NM_004369.4:c.8601A>C MANE Select	NP_004360.2:p.Thr2867=
NM_057166.5:c.6780A>C	NP_476507.3:p.Thr2260=
NM_057167.4:c.7983A>C	NP_476508.2:p.Thr2661=