Canonical Allele Identifier: CA351187839

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237366921-C-A
• MyVariant Identifiers: chr2:g.238275564C>A (hg19) ; chr2:g.237366921C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237366921C>A , CM000664.2:g.237366921C>A	GRCh38
NC_000002.11:g.238275564C>A , CM000664.1:g.238275564C>A	GRCh37
NC_000002.10:g.237940303C>A	NCBI36
NG_008676.1:g.52287G>T , LRG_473:g.52287G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000353578.9:c.4648G>T	ENSP00000315873.4:p.Val1550Leu
ENST00000295550.9:c.5266G>T MANE Select	ENSP00000295550.4:p.Val1756Leu
ENST00000295550.8:c.5266G>T	ENSP00000295550.4:p.Val1756Leu
ENST00000347401.7:c.3445G>T	ENSP00000315609.4:p.Val1149Leu
ENST00000353578.8:c.4648G>T	ENSP00000315873.4:p.Val1550Leu
ENST00000409809.5:c.4648G>T	ENSP00000386844.1:p.Val1550Leu
ENST00000472056.5:c.3445G>T	ENSP00000418285.1:p.Val1149Leu
NM_004369.3:c.5266G>T , LRG_473t1:c.5266G>T	NP_004360.2:p.Val1756Leu
NM_057166.4:c.3445G>T	NP_476507.3:p.Val1149Leu
NM_057167.3:c.4648G>T	NP_476508.2:p.Val1550Leu
XM_005246065.1:c.4666G>T	XP_005246122.1:p.Val1556Leu
XM_005246066.1:c.4045G>T	XP_005246123.1:p.Val1349Leu
XM_006712253.1:c.4765G>T	XP_006712316.1:p.Val1589Leu
XM_011510574.1:c.5263G>T	XP_011508876.1:p.Val1755Leu
XM_011510575.1:c.2860G>T	XP_011508877.1:p.Val954Leu
XM_017003304.1:c.2860G>T	XP_016858793.1:p.Val954Leu
XM_024452684.1:c.4045G>T	XP_024308452.1:p.Val1349Leu
NM_004369.4:c.5266G>T MANE Select	NP_004360.2:p.Val1756Leu
NM_057166.5:c.3445G>T	NP_476507.3:p.Val1149Leu
NM_057167.4:c.4648G>T	NP_476508.2:p.Val1550Leu