Canonical Allele Identifier: CA351196713

Gene: COL6A3

Linked Data

• gnomAD v3: 2-237371852-A-T
• gnomAD v4: 2-237371852-A-T
• MyVariant Identifiers: chr2:g.238280495A>T (hg19) ; chr2:g.237371852A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237371852A>T , CM000664.2:g.237371852A>T	GRCh38
NC_000002.11:g.238280495A>T , CM000664.1:g.238280495A>T	GRCh37
NC_000002.10:g.237945234A>T	NCBI36
NG_008676.1:g.47356T>A , LRG_473:g.47356T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.3547T>A	ENSP00000315873.4:p.Phe1183Ile
ENST00000295550.9:c.4165T>A MANE Select	ENSP00000295550.4:p.Phe1389Ile
ENST00000295550.8:c.4165T>A	ENSP00000295550.4:p.Phe1389Ile
ENST00000347401.7:c.2344T>A	ENSP00000315609.4:p.Phe782Ile
ENST00000353578.8:c.3547T>A	ENSP00000315873.4:p.Phe1183Ile
ENST00000392003.6:c.2944T>A	ENSP00000375860.2:p.Phe982Ile
ENST00000392004.7:c.3547T>A	ENSP00000375861.3:p.Phe1183Ile
ENST00000409809.5:c.3547T>A	ENSP00000386844.1:p.Phe1183Ile
ENST00000472056.5:c.2344T>A	ENSP00000418285.1:p.Phe782Ile
NM_004369.3:c.4165T>A , LRG_473t1:c.4165T>A	NP_004360.2:p.Phe1389Ile
NM_057164.4:c.2944T>A	NP_476505.3:p.Phe982Ile
NM_057165.4:c.3547T>A	NP_476506.3:p.Phe1183Ile
NM_057166.4:c.2344T>A	NP_476507.3:p.Phe782Ile
NM_057167.3:c.3547T>A	NP_476508.2:p.Phe1183Ile
XM_005246065.1:c.3565T>A	XP_005246122.1:p.Phe1189Ile
XM_005246066.1:c.2944T>A	XP_005246123.1:p.Phe982Ile
XM_006712253.1:c.4165T>A	XP_006712316.1:p.Phe1389Ile
XM_011510574.1:c.4165T>A	XP_011508876.1:p.Phe1389Ile
XM_011510575.1:c.1759T>A	XP_011508877.1:p.Phe587Ile
XM_017003304.1:c.1759T>A	XP_016858793.1:p.Phe587Ile
XM_024452684.1:c.2944T>A	XP_024308452.1:p.Phe982Ile
NM_004369.4:c.4165T>A MANE Select	NP_004360.2:p.Phe1389Ile
NM_057164.5:c.2944T>A	NP_476505.3:p.Phe982Ile
NM_057165.5:c.3547T>A	NP_476506.3:p.Phe1183Ile
NM_057166.5:c.2344T>A	NP_476507.3:p.Phe782Ile
NM_057167.4:c.3547T>A	NP_476508.2:p.Phe1183Ile