Canonical Allele Identifier: CA2663792144

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237336101-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336101C>G , CM000664.2:g.237336101C>G	GRCh38
NC_000002.11:g.238244744C>G , CM000664.1:g.238244744C>G	GRCh37
NC_000002.10:g.237909483C>G	NCBI36
NG_008676.1:g.83107G>C , LRG_473:g.83107G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1610+34G>C
ENST00000353578.9:c.8347+34G>C	ENSP00000315873.4:n.8347+34G>C
ENST00000682957.1:c.1092+34G>C
ENST00000684508.1:n.1266G>C
ENST00000295550.9:c.8965+34G>C MANE Select	ENSP00000295550.4:n.8965+34G>C
ENST00000295550.8:c.8965+34G>C	ENSP00000295550.4:n.8965+34G>C
ENST00000347401.7:c.7141+34G>C	ENSP00000315609.4:n.7141+34G>C
ENST00000353578.8:c.8347+34G>C	ENSP00000315873.4:n.8347+34G>C
ENST00000409809.5:c.8347+34G>C	ENSP00000386844.1:n.8347+34G>C
ENST00000472056.5:c.7144+34G>C	ENSP00000418285.1:n.7144+34G>C
ENST00000491769.1:n.5407+34G>C
NM_004369.3:c.8965+34G>C , LRG_473t1:c.8965+34G>C	NP_004360.2:n.8965+34G>C
NM_057166.4:c.7144+34G>C	NP_476507.3:n.7144+34G>C
NM_057167.3:c.8347+34G>C	NP_476508.2:n.8347+34G>C
XM_005246065.1:c.8365+34G>C	XP_005246122.1:n.8365+34G>C
XM_005246066.1:c.7744+34G>C	XP_005246123.1:n.7744+34G>C
XM_006712253.1:c.8464+34G>C	XP_006712316.1:n.8464+34G>C
XM_011510574.1:c.8962+34G>C	XP_011508876.1:n.8962+34G>C
XM_011510575.1:c.6559+34G>C	XP_011508877.1:n.6559+34G>C
XM_017003304.1:c.6559+34G>C	XP_016858793.1:n.6559+34G>C
XM_024452684.1:c.7744+34G>C	XP_024308452.1:n.7744+34G>C
NM_004369.4:c.8965+34G>C MANE Select	NP_004360.2:n.8965+34G>C
NM_057166.5:c.7144+34G>C	NP_476507.3:n.7144+34G>C
NM_057167.4:c.8347+34G>C	NP_476508.2:n.8347+34G>C