Canonical Allele Identifier: CA431701414

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238244920T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336277T>G , CM000664.2:g.237336277T>G	GRCh38
NC_000002.11:g.238244920T>G , CM000664.1:g.238244920T>G	GRCh37
NC_000002.10:g.237909659T>G	NCBI36
NG_008676.1:g.82931A>C , LRG_473:g.82931A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1468A>C
ENST00000353578.9:c.8205A>C	ENSP00000315873.4:p.Ala2735=
ENST00000682957.1:c.950A>C
ENST00000684508.1:n.1090A>C
ENST00000295550.9:c.8823A>C MANE Select	ENSP00000295550.4:p.Ala2941=
ENST00000295550.8:c.8823A>C	ENSP00000295550.4:p.Ala2941=
ENST00000347401.7:c.6999A>C	ENSP00000315609.4:p.Ala2333=
ENST00000353578.8:c.8205A>C	ENSP00000315873.4:p.Ala2735=
ENST00000409809.5:c.8205A>C	ENSP00000386844.1:p.Ala2735=
ENST00000472056.5:c.7002A>C	ENSP00000418285.1:p.Ala2334=
ENST00000491769.1:n.5265A>C
NM_004369.3:c.8823A>C , LRG_473t1:c.8823A>C	NP_004360.2:p.Ala2941=
NM_057166.4:c.7002A>C	NP_476507.3:p.Ala2334=
NM_057167.3:c.8205A>C	NP_476508.2:p.Ala2735=
XM_005246065.1:c.8223A>C	XP_005246122.1:p.Ala2741=
XM_005246066.1:c.7602A>C	XP_005246123.1:p.Ala2534=
XM_006712253.1:c.8322A>C	XP_006712316.1:p.Ala2774=
XM_011510574.1:c.8820A>C	XP_011508876.1:p.Ala2940=
XM_011510575.1:c.6417A>C	XP_011508877.1:p.Ala2139=
XM_017003304.1:c.6417A>C	XP_016858793.1:p.Ala2139=
XM_024452684.1:c.7602A>C	XP_024308452.1:p.Ala2534=
NM_004369.4:c.8823A>C MANE Select	NP_004360.2:p.Ala2941=
NM_057166.5:c.7002A>C	NP_476507.3:p.Ala2334=
NM_057167.4:c.8205A>C	NP_476508.2:p.Ala2735=