Canonical Allele Identifier: CA351202299

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238253121A>C (hg19) ; chr2:g.237344478A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344478A>C , CM000664.2:g.237344478A>C	GRCh38
NC_000002.11:g.238253121A>C , CM000664.1:g.238253121A>C	GRCh37
NC_000002.10:g.237917860A>C	NCBI36
NG_008676.1:g.74730T>G , LRG_473:g.74730T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.185T>G
ENST00000353578.9:c.6922T>G	ENSP00000315873.4:p.Phe2308Val
ENST00000295550.9:c.7540T>G MANE Select	ENSP00000295550.4:p.Phe2514Val
ENST00000295550.8:c.7540T>G	ENSP00000295550.4:p.Phe2514Val
ENST00000347401.7:c.5716T>G	ENSP00000315609.4:p.Phe1906Val
ENST00000353578.8:c.6922T>G	ENSP00000315873.4:p.Phe2308Val
ENST00000409809.5:c.6922T>G	ENSP00000386844.1:p.Phe2308Val
ENST00000472056.5:c.5719T>G	ENSP00000418285.1:p.Phe1907Val
ENST00000491769.1:n.1794T>G
NM_004369.3:c.7540T>G , LRG_473t1:c.7540T>G	NP_004360.2:p.Phe2514Val
NM_057166.4:c.5719T>G	NP_476507.3:p.Phe1907Val
NM_057167.3:c.6922T>G	NP_476508.2:p.Phe2308Val
XM_005246065.1:c.6940T>G	XP_005246122.1:p.Phe2314Val
XM_005246066.1:c.6319T>G	XP_005246123.1:p.Phe2107Val
XM_006712253.1:c.7039T>G	XP_006712316.1:p.Phe2347Val
XM_011510574.1:c.7537T>G	XP_011508876.1:p.Phe2513Val
XM_011510575.1:c.5134T>G	XP_011508877.1:p.Phe1712Val
XM_017003304.1:c.5134T>G	XP_016858793.1:p.Phe1712Val
XM_024452684.1:c.6319T>G	XP_024308452.1:p.Phe2107Val
NM_004369.4:c.7540T>G MANE Select	NP_004360.2:p.Phe2514Val
NM_057166.5:c.5719T>G	NP_476507.3:p.Phe1907Val
NM_057167.4:c.6922T>G	NP_476508.2:p.Phe2308Val