Canonical Allele Identifier: CA2663791465

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237336571-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336571G>A , CM000664.2:g.237336571G>A	GRCh38
NC_000002.11:g.238245214G>A , CM000664.1:g.238245214G>A	GRCh37
NC_000002.10:g.237909953G>A	NCBI36
NG_008676.1:g.82637C>T , LRG_473:g.82637C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1213-39C>T
ENST00000353578.9:c.7950-39C>T	ENSP00000315873.4:n.7950-39C>T
ENST00000682957.1:c.695-39C>T
ENST00000684508.1:n.835-39C>T
ENST00000295550.9:c.8568-39C>T MANE Select	ENSP00000295550.4:n.8568-39C>T
ENST00000295550.8:c.8568-39C>T	ENSP00000295550.4:n.8568-39C>T
ENST00000347401.7:c.6744-39C>T	ENSP00000315609.4:n.6744-39C>T
ENST00000353578.8:c.7950-39C>T	ENSP00000315873.4:n.7950-39C>T
ENST00000409809.5:c.7950-39C>T	ENSP00000386844.1:n.7950-39C>T
ENST00000472056.5:c.6747-39C>T	ENSP00000418285.1:n.6747-39C>T
ENST00000491769.1:n.5010-39C>T
NM_004369.3:c.8568-39C>T , LRG_473t1:c.8568-39C>T	NP_004360.2:n.8568-39C>T
NM_057166.4:c.6747-39C>T	NP_476507.3:n.6747-39C>T
NM_057167.3:c.7950-39C>T	NP_476508.2:n.7950-39C>T
XM_005246065.1:c.7968-39C>T	XP_005246122.1:n.7968-39C>T
XM_005246066.1:c.7347-39C>T	XP_005246123.1:n.7347-39C>T
XM_006712253.1:c.8067-39C>T	XP_006712316.1:n.8067-39C>T
XM_011510574.1:c.8565-39C>T	XP_011508876.1:n.8565-39C>T
XM_011510575.1:c.6162-39C>T	XP_011508877.1:n.6162-39C>T
XM_017003304.1:c.6162-39C>T	XP_016858793.1:n.6162-39C>T
XM_024452684.1:c.7347-39C>T	XP_024308452.1:n.7347-39C>T
NM_004369.4:c.8568-39C>T MANE Select	NP_004360.2:n.8568-39C>T
NM_057166.5:c.6747-39C>T	NP_476507.3:n.6747-39C>T
NM_057167.4:c.7950-39C>T	NP_476508.2:n.7950-39C>T