Canonical Allele Identifier: CA351191737

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238245002G>T (hg19) ; chr2:g.237336359G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336359G>T , CM000664.2:g.237336359G>T	GRCh38
NC_000002.11:g.238245002G>T , CM000664.1:g.238245002G>T	GRCh37
NC_000002.10:g.237909741G>T	NCBI36
NG_008676.1:g.82849C>A , LRG_473:g.82849C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1386C>A
ENST00000353578.9:c.8123C>A	ENSP00000315873.4:p.Pro2708His
ENST00000682957.1:c.868C>A
ENST00000684508.1:n.1008C>A
ENST00000295550.9:c.8741C>A MANE Select	ENSP00000295550.4:p.Pro2914His
ENST00000295550.8:c.8741C>A	ENSP00000295550.4:p.Pro2914His
ENST00000347401.7:c.6917C>A	ENSP00000315609.4:p.Pro2306His
ENST00000353578.8:c.8123C>A	ENSP00000315873.4:p.Pro2708His
ENST00000409809.5:c.8123C>A	ENSP00000386844.1:p.Pro2708His
ENST00000472056.5:c.6920C>A	ENSP00000418285.1:p.Pro2307His
ENST00000491769.1:n.5183C>A
NM_004369.3:c.8741C>A , LRG_473t1:c.8741C>A	NP_004360.2:p.Pro2914His
NM_057166.4:c.6920C>A	NP_476507.3:p.Pro2307His
NM_057167.3:c.8123C>A	NP_476508.2:p.Pro2708His
XM_005246065.1:c.8141C>A	XP_005246122.1:p.Pro2714His
XM_005246066.1:c.7520C>A	XP_005246123.1:p.Pro2507His
XM_006712253.1:c.8240C>A	XP_006712316.1:p.Pro2747His
XM_011510574.1:c.8738C>A	XP_011508876.1:p.Pro2913His
XM_011510575.1:c.6335C>A	XP_011508877.1:p.Pro2112His
XM_017003304.1:c.6335C>A	XP_016858793.1:p.Pro2112His
XM_024452684.1:c.7520C>A	XP_024308452.1:p.Pro2507His
NM_004369.4:c.8741C>A MANE Select	NP_004360.2:p.Pro2914His
NM_057166.5:c.6920C>A	NP_476507.3:p.Pro2307His
NM_057167.4:c.8123C>A	NP_476508.2:p.Pro2708His