Canonical Allele Identifier: CA2187462

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336405T>C , CM000664.2:g.237336405T>C	GRCh38
NC_000002.11:g.238245048T>C , CM000664.1:g.238245048T>C	GRCh37
NC_000002.10:g.237909787T>C	NCBI36
NG_008676.1:g.82803A>G , LRG_473:g.82803A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.8695A>G MANE Select	NP_004360.2:p.Ile2899Val
ENST00000295550.9:c.8695A>G MANE Select	ENSP00000295550.4:p.Ile2899Val
NM_004369.3:c.8695A>G , LRG_473t1:c.8695A>G	NP_004360.2:p.Ile2899Val
NM_057166.4:c.6874A>G	NP_476507.3:p.Ile2292Val
NM_057166.5:c.6874A>G	NP_476507.3:p.Ile2292Val
NM_057167.3:c.8077A>G	NP_476508.2:p.Ile2693Val
NM_057167.4:c.8077A>G	NP_476508.2:p.Ile2693Val
ENST00000295550.8:c.8695A>G	ENSP00000295550.4:p.Ile2899Val
ENST00000347401.7:c.6871A>G	ENSP00000315609.4:p.Ile2291Val
ENST00000347401.8:c.1340A>G
ENST00000353578.8:c.8077A>G	ENSP00000315873.4:p.Ile2693Val
ENST00000353578.9:c.8077A>G	ENSP00000315873.4:p.Ile2693Val
ENST00000409809.5:c.8077A>G	ENSP00000386844.1:p.Ile2693Val
ENST00000472056.5:c.6874A>G	ENSP00000418285.1:p.Ile2292Val
ENST00000491769.1:n.5137A>G
ENST00000682957.1:c.822A>G
ENST00000684508.1:n.962A>G
XM_005246065.1:c.8095A>G	XP_005246122.1:p.Ile2699Val
XM_005246066.1:c.7474A>G	XP_005246123.1:p.Ile2492Val
XM_006712253.1:c.8194A>G	XP_006712316.1:p.Ile2732Val
XM_011510574.1:c.8692A>G	XP_011508876.1:p.Ile2898Val
XM_011510575.1:c.6289A>G	XP_011508877.1:p.Ile2097Val
XM_017003304.1:c.6289A>G	XP_016858793.1:p.Ile2097Val
XM_024452684.1:c.7474A>G	XP_024308452.1:p.Ile2492Val