Canonical Allele Identifier: CA2663791775

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237334518-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334518A>G , CM000664.2:g.237334518A>G	GRCh38
NC_000002.11:g.238243161A>G , CM000664.1:g.238243161A>G	GRCh37
NC_000002.10:g.237907900A>G	NCBI36
NG_008676.1:g.84690T>C , LRG_473:g.84690T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1611-970T>C
ENST00000353578.9:c.8611+108T>C	ENSP00000315873.4:n.8611+108T>C
ENST00000682957.1:c.1356+108T>C
ENST00000683348.1:c.97+108T>C	ENSP00000508058.1:n.97+108T>C
ENST00000295550.9:c.9229+108T>C MANE Select	ENSP00000295550.4:n.9229+108T>C
ENST00000295550.8:c.9229+108T>C	ENSP00000295550.4:n.9229+108T>C
ENST00000347401.7:c.7405+108T>C	ENSP00000315609.4:n.7405+108T>C
ENST00000353578.8:c.8611+108T>C	ENSP00000315873.4:n.8611+108T>C
ENST00000409809.5:c.8611+108T>C	ENSP00000386844.1:n.8611+108T>C
ENST00000472056.5:c.7408+108T>C	ENSP00000418285.1:n.7408+108T>C
ENST00000491769.1:n.5671+108T>C
ENST00000493608.1:n.161+108T>C
NM_004369.3:c.9229+108T>C , LRG_473t1:c.9229+108T>C	NP_004360.2:n.9229+108T>C
NM_057166.4:c.7408+108T>C	NP_476507.3:n.7408+108T>C
NM_057167.3:c.8611+108T>C	NP_476508.2:n.8611+108T>C
XM_005246065.1:c.8629+108T>C	XP_005246122.1:n.8629+108T>C
XM_005246066.1:c.8008+108T>C	XP_005246123.1:n.8008+108T>C
XM_006712253.1:c.8728+108T>C	XP_006712316.1:n.8728+108T>C
XM_011510574.1:c.9226+108T>C	XP_011508876.1:n.9226+108T>C
XM_011510575.1:c.6823+108T>C	XP_011508877.1:n.6823+108T>C
XM_017003304.1:c.6823+108T>C	XP_016858793.1:n.6823+108T>C
XM_024452684.1:c.8008+108T>C	XP_024308452.1:n.8008+108T>C
NM_004369.4:c.9229+108T>C MANE Select	NP_004360.2:n.9229+108T>C
NM_057166.5:c.7408+108T>C	NP_476507.3:n.7408+108T>C
NM_057167.4:c.8611+108T>C	NP_476508.2:n.8611+108T>C