Canonical Allele Identifier: CA351202274

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238253117A>C (hg19) ; chr2:g.237344474A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344474A>C , CM000664.2:g.237344474A>C	GRCh38
NC_000002.11:g.238253117A>C , CM000664.1:g.238253117A>C	GRCh37
NC_000002.10:g.237917856A>C	NCBI36
NG_008676.1:g.74734T>G , LRG_473:g.74734T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.189T>G
ENST00000353578.9:c.6926T>G	ENSP00000315873.4:p.Phe2309Cys
ENST00000295550.9:c.7544T>G MANE Select	ENSP00000295550.4:p.Phe2515Cys
ENST00000295550.8:c.7544T>G	ENSP00000295550.4:p.Phe2515Cys
ENST00000347401.7:c.5720T>G	ENSP00000315609.4:p.Phe1907Cys
ENST00000353578.8:c.6926T>G	ENSP00000315873.4:p.Phe2309Cys
ENST00000409809.5:c.6926T>G	ENSP00000386844.1:p.Phe2309Cys
ENST00000472056.5:c.5723T>G	ENSP00000418285.1:p.Phe1908Cys
ENST00000491769.1:n.1798T>G
NM_004369.3:c.7544T>G , LRG_473t1:c.7544T>G	NP_004360.2:p.Phe2515Cys
NM_057166.4:c.5723T>G	NP_476507.3:p.Phe1908Cys
NM_057167.3:c.6926T>G	NP_476508.2:p.Phe2309Cys
XM_005246065.1:c.6944T>G	XP_005246122.1:p.Phe2315Cys
XM_005246066.1:c.6323T>G	XP_005246123.1:p.Phe2108Cys
XM_006712253.1:c.7043T>G	XP_006712316.1:p.Phe2348Cys
XM_011510574.1:c.7541T>G	XP_011508876.1:p.Phe2514Cys
XM_011510575.1:c.5138T>G	XP_011508877.1:p.Phe1713Cys
XM_017003304.1:c.5138T>G	XP_016858793.1:p.Phe1713Cys
XM_024452684.1:c.6323T>G	XP_024308452.1:p.Phe2108Cys
NM_004369.4:c.7544T>G MANE Select	NP_004360.2:p.Phe2515Cys
NM_057166.5:c.5723T>G	NP_476507.3:p.Phe1908Cys
NM_057167.4:c.6926T>G	NP_476508.2:p.Phe2309Cys