Canonical Allele Identifier: CA2663795137

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237360173-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237360173C>A , CM000664.2:g.237360173C>A	GRCh38
NC_000002.11:g.238268816C>A , CM000664.1:g.238268816C>A	GRCh37
NC_000002.10:g.237933555C>A	NCBI36
NG_008676.1:g.59035G>T , LRG_473:g.59035G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.5593-14G>T	ENSP00000315873.4:n.5593-14G>T
ENST00000295550.9:c.6211-14G>T MANE Select	ENSP00000295550.4:n.6211-14G>T
ENST00000295550.8:c.6211-14G>T	ENSP00000295550.4:n.6211-14G>T
ENST00000347401.7:c.4390-14G>T	ENSP00000315609.4:n.4390-14G>T
ENST00000353578.8:c.5593-14G>T	ENSP00000315873.4:n.5593-14G>T
ENST00000409809.5:c.5593-14G>T	ENSP00000386844.1:n.5593-14G>T
ENST00000472056.5:c.4390-14G>T	ENSP00000418285.1:n.4390-14G>T
NM_004369.3:c.6211-14G>T , LRG_473t1:c.6211-14G>T	NP_004360.2:n.6211-14G>T
NM_057166.4:c.4390-14G>T	NP_476507.3:n.4390-14G>T
NM_057167.3:c.5593-14G>T	NP_476508.2:n.5593-14G>T
XM_005246065.1:c.5611-14G>T	XP_005246122.1:n.5611-14G>T
XM_005246066.1:c.4990-14G>T	XP_005246123.1:n.4990-14G>T
XM_006712253.1:c.5710-14G>T	XP_006712316.1:n.5710-14G>T
XM_011510574.1:c.6208-14G>T	XP_011508876.1:n.6208-14G>T
XM_011510575.1:c.3805-14G>T	XP_011508877.1:n.3805-14G>T
XM_017003304.1:c.3805-14G>T	XP_016858793.1:n.3805-14G>T
XM_024452684.1:c.4990-14G>T	XP_024308452.1:n.4990-14G>T
NM_004369.4:c.6211-14G>T MANE Select	NP_004360.2:n.6211-14G>T
NM_057166.5:c.4390-14G>T	NP_476507.3:n.4390-14G>T
NM_057167.4:c.5593-14G>T	NP_476508.2:n.5593-14G>T