Canonical Allele Identifier: CA431701249

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238244905T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336262T>A , CM000664.2:g.237336262T>A	GRCh38
NC_000002.11:g.238244905T>A , CM000664.1:g.238244905T>A	GRCh37
NC_000002.10:g.237909644T>A	NCBI36
NG_008676.1:g.82946A>T , LRG_473:g.82946A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1483A>T
ENST00000353578.9:c.8220A>T	ENSP00000315873.4:p.Ala2740=
ENST00000682957.1:c.965A>T
ENST00000684508.1:n.1105A>T
ENST00000295550.9:c.8838A>T MANE Select	ENSP00000295550.4:p.Ala2946=
ENST00000295550.8:c.8838A>T	ENSP00000295550.4:p.Ala2946=
ENST00000347401.7:c.7014A>T	ENSP00000315609.4:p.Ala2338=
ENST00000353578.8:c.8220A>T	ENSP00000315873.4:p.Ala2740=
ENST00000409809.5:c.8220A>T	ENSP00000386844.1:p.Ala2740=
ENST00000472056.5:c.7017A>T	ENSP00000418285.1:p.Ala2339=
ENST00000491769.1:n.5280A>T
NM_004369.3:c.8838A>T , LRG_473t1:c.8838A>T	NP_004360.2:p.Ala2946=
NM_057166.4:c.7017A>T	NP_476507.3:p.Ala2339=
NM_057167.3:c.8220A>T	NP_476508.2:p.Ala2740=
XM_005246065.1:c.8238A>T	XP_005246122.1:p.Ala2746=
XM_005246066.1:c.7617A>T	XP_005246123.1:p.Ala2539=
XM_006712253.1:c.8337A>T	XP_006712316.1:p.Ala2779=
XM_011510574.1:c.8835A>T	XP_011508876.1:p.Ala2945=
XM_011510575.1:c.6432A>T	XP_011508877.1:p.Ala2144=
XM_017003304.1:c.6432A>T	XP_016858793.1:p.Ala2144=
XM_024452684.1:c.7617A>T	XP_024308452.1:p.Ala2539=
NM_004369.4:c.8838A>T MANE Select	NP_004360.2:p.Ala2946=
NM_057166.5:c.7017A>T	NP_476507.3:p.Ala2339=
NM_057167.4:c.8220A>T	NP_476508.2:p.Ala2740=