Canonical Allele Identifier: CA351196763

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238280506G>T (hg19) ; chr2:g.237371863G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237371863G>T , CM000664.2:g.237371863G>T	GRCh38
NC_000002.11:g.238280506G>T , CM000664.1:g.238280506G>T	GRCh37
NC_000002.10:g.237945245G>T	NCBI36
NG_008676.1:g.47345C>A , LRG_473:g.47345C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.3536C>A	ENSP00000315873.4:p.Pro1179His
ENST00000295550.9:c.4154C>A MANE Select	ENSP00000295550.4:p.Pro1385His
ENST00000295550.8:c.4154C>A	ENSP00000295550.4:p.Pro1385His
ENST00000347401.7:c.2333C>A	ENSP00000315609.4:p.Pro778His
ENST00000353578.8:c.3536C>A	ENSP00000315873.4:p.Pro1179His
ENST00000392003.6:c.2933C>A	ENSP00000375860.2:p.Pro978His
ENST00000392004.7:c.3536C>A	ENSP00000375861.3:p.Pro1179His
ENST00000409809.5:c.3536C>A	ENSP00000386844.1:p.Pro1179His
ENST00000472056.5:c.2333C>A	ENSP00000418285.1:p.Pro778His
NM_004369.3:c.4154C>A , LRG_473t1:c.4154C>A	NP_004360.2:p.Pro1385His
NM_057164.4:c.2933C>A	NP_476505.3:p.Pro978His
NM_057165.4:c.3536C>A	NP_476506.3:p.Pro1179His
NM_057166.4:c.2333C>A	NP_476507.3:p.Pro778His
NM_057167.3:c.3536C>A	NP_476508.2:p.Pro1179His
XM_005246065.1:c.3554C>A	XP_005246122.1:p.Pro1185His
XM_005246066.1:c.2933C>A	XP_005246123.1:p.Pro978His
XM_006712253.1:c.4154C>A	XP_006712316.1:p.Pro1385His
XM_011510574.1:c.4154C>A	XP_011508876.1:p.Pro1385His
XM_011510575.1:c.1748C>A	XP_011508877.1:p.Pro583His
XM_017003304.1:c.1748C>A	XP_016858793.1:p.Pro583His
XM_024452684.1:c.2933C>A	XP_024308452.1:p.Pro978His
NM_004369.4:c.4154C>A MANE Select	NP_004360.2:p.Pro1385His
NM_057164.5:c.2933C>A	NP_476505.3:p.Pro978His
NM_057165.5:c.3536C>A	NP_476506.3:p.Pro1179His
NM_057166.5:c.2333C>A	NP_476507.3:p.Pro778His
NM_057167.4:c.3536C>A	NP_476508.2:p.Pro1179His