Canonical Allele Identifier: CA351194904

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238249181A>C (hg19) ; chr2:g.237340538A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340538A>C , CM000664.2:g.237340538A>C	GRCh38
NC_000002.11:g.238249181A>C , CM000664.1:g.238249181A>C	GRCh37
NC_000002.10:g.237913920A>C	NCBI36
NG_008676.1:g.78670T>G , LRG_473:g.78670T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1023T>G
ENST00000353578.9:c.7760T>G	ENSP00000315873.4:p.Val2587Gly
ENST00000682957.1:c.381T>G
ENST00000684508.1:n.645T>G
ENST00000295550.9:c.8378T>G MANE Select	ENSP00000295550.4:p.Val2793Gly
ENST00000295550.8:c.8378T>G	ENSP00000295550.4:p.Val2793Gly
ENST00000347401.7:c.6554T>G	ENSP00000315609.4:p.Val2185Gly
ENST00000353578.8:c.7760T>G	ENSP00000315873.4:p.Val2587Gly
ENST00000409809.5:c.7760T>G	ENSP00000386844.1:p.Val2587Gly
ENST00000468792.1:n.65T>G
ENST00000472056.5:c.6557T>G	ENSP00000418285.1:p.Val2186Gly
ENST00000491769.1:n.4820T>G
NM_004369.3:c.8378T>G , LRG_473t1:c.8378T>G	NP_004360.2:p.Val2793Gly
NM_057166.4:c.6557T>G	NP_476507.3:p.Val2186Gly
NM_057167.3:c.7760T>G	NP_476508.2:p.Val2587Gly
XM_005246065.1:c.7778T>G	XP_005246122.1:p.Val2593Gly
XM_005246066.1:c.7157T>G	XP_005246123.1:p.Val2386Gly
XM_006712253.1:c.7877T>G	XP_006712316.1:p.Val2626Gly
XM_011510574.1:c.8375T>G	XP_011508876.1:p.Val2792Gly
XM_011510575.1:c.5972T>G	XP_011508877.1:p.Val1991Gly
XM_017003304.1:c.5972T>G	XP_016858793.1:p.Val1991Gly
XM_024452684.1:c.7157T>G	XP_024308452.1:p.Val2386Gly
NM_004369.4:c.8378T>G MANE Select	NP_004360.2:p.Val2793Gly
NM_057166.5:c.6557T>G	NP_476507.3:p.Val2186Gly
NM_057167.4:c.7760T>G	NP_476508.2:p.Val2587Gly