Canonical Allele Identifier: CA351194856

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238249174G>C (hg19) ; chr2:g.237340531G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340531G>C , CM000664.2:g.237340531G>C	GRCh38
NC_000002.11:g.238249174G>C , CM000664.1:g.238249174G>C	GRCh37
NC_000002.10:g.237913913G>C	NCBI36
NG_008676.1:g.78677C>G , LRG_473:g.78677C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1030C>G
ENST00000353578.9:c.7767C>G	ENSP00000315873.4:p.Phe2589Leu
ENST00000682957.1:c.388C>G
ENST00000684508.1:n.652C>G
ENST00000295550.9:c.8385C>G MANE Select	ENSP00000295550.4:p.Phe2795Leu
ENST00000295550.8:c.8385C>G	ENSP00000295550.4:p.Phe2795Leu
ENST00000347401.7:c.6561C>G	ENSP00000315609.4:p.Phe2187Leu
ENST00000353578.8:c.7767C>G	ENSP00000315873.4:p.Phe2589Leu
ENST00000409809.5:c.7767C>G	ENSP00000386844.1:p.Phe2589Leu
ENST00000468792.1:n.72C>G
ENST00000472056.5:c.6564C>G	ENSP00000418285.1:p.Phe2188Leu
ENST00000491769.1:n.4827C>G
NM_004369.3:c.8385C>G , LRG_473t1:c.8385C>G	NP_004360.2:p.Phe2795Leu
NM_057166.4:c.6564C>G	NP_476507.3:p.Phe2188Leu
NM_057167.3:c.7767C>G	NP_476508.2:p.Phe2589Leu
XM_005246065.1:c.7785C>G	XP_005246122.1:p.Phe2595Leu
XM_005246066.1:c.7164C>G	XP_005246123.1:p.Phe2388Leu
XM_006712253.1:c.7884C>G	XP_006712316.1:p.Phe2628Leu
XM_011510574.1:c.8382C>G	XP_011508876.1:p.Phe2794Leu
XM_011510575.1:c.5979C>G	XP_011508877.1:p.Phe1993Leu
XM_017003304.1:c.5979C>G	XP_016858793.1:p.Phe1993Leu
XM_024452684.1:c.7164C>G	XP_024308452.1:p.Phe2388Leu
NM_004369.4:c.8385C>G MANE Select	NP_004360.2:p.Phe2795Leu
NM_057166.5:c.6564C>G	NP_476507.3:p.Phe2188Leu
NM_057167.4:c.7767C>G	NP_476508.2:p.Phe2589Leu