Canonical Allele Identifier: CA351195104

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237340569-C-T
• MyVariant Identifiers: chr2:g.238249212C>T (hg19) ; chr2:g.237340569C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340569C>T , CM000664.2:g.237340569C>T	GRCh38
NC_000002.11:g.238249212C>T , CM000664.1:g.238249212C>T	GRCh37
NC_000002.10:g.237913951C>T	NCBI36
NG_008676.1:g.78639G>A , LRG_473:g.78639G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.992G>A
ENST00000353578.9:c.7729G>A	ENSP00000315873.4:p.Val2577Ile
ENST00000682957.1:c.350G>A
ENST00000684508.1:n.614G>A
ENST00000295550.9:c.8347G>A MANE Select	ENSP00000295550.4:p.Val2783Ile
ENST00000295550.8:c.8347G>A	ENSP00000295550.4:p.Val2783Ile
ENST00000347401.7:c.6523G>A	ENSP00000315609.4:p.Val2175Ile
ENST00000353578.8:c.7729G>A	ENSP00000315873.4:p.Val2577Ile
ENST00000409809.5:c.7729G>A	ENSP00000386844.1:p.Val2577Ile
ENST00000468792.1:n.34G>A
ENST00000472056.5:c.6526G>A	ENSP00000418285.1:p.Val2176Ile
ENST00000491769.1:n.4789G>A
NM_004369.3:c.8347G>A , LRG_473t1:c.8347G>A	NP_004360.2:p.Val2783Ile
NM_057166.4:c.6526G>A	NP_476507.3:p.Val2176Ile
NM_057167.3:c.7729G>A	NP_476508.2:p.Val2577Ile
XM_005246065.1:c.7747G>A	XP_005246122.1:p.Val2583Ile
XM_005246066.1:c.7126G>A	XP_005246123.1:p.Val2376Ile
XM_006712253.1:c.7846G>A	XP_006712316.1:p.Val2616Ile
XM_011510574.1:c.8344G>A	XP_011508876.1:p.Val2782Ile
XM_011510575.1:c.5941G>A	XP_011508877.1:p.Val1981Ile
XM_017003304.1:c.5941G>A	XP_016858793.1:p.Val1981Ile
XM_024452684.1:c.7126G>A	XP_024308452.1:p.Val2376Ile
NM_004369.4:c.8347G>A MANE Select	NP_004360.2:p.Val2783Ile
NM_057166.5:c.6526G>A	NP_476507.3:p.Val2176Ile
NM_057167.4:c.7729G>A	NP_476508.2:p.Val2577Ile