Canonical Allele Identifier: CA351196745

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238280502T>A (hg19) ; chr2:g.237371859T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237371859T>A , CM000664.2:g.237371859T>A	GRCh38
NC_000002.11:g.238280502T>A , CM000664.1:g.238280502T>A	GRCh37
NC_000002.10:g.237945241T>A	NCBI36
NG_008676.1:g.47349A>T , LRG_473:g.47349A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.3540A>T	ENSP00000315873.4:p.Glu1180Asp
ENST00000295550.9:c.4158A>T MANE Select	ENSP00000295550.4:p.Glu1386Asp
ENST00000295550.8:c.4158A>T	ENSP00000295550.4:p.Glu1386Asp
ENST00000347401.7:c.2337A>T	ENSP00000315609.4:p.Glu779Asp
ENST00000353578.8:c.3540A>T	ENSP00000315873.4:p.Glu1180Asp
ENST00000392003.6:c.2937A>T	ENSP00000375860.2:p.Glu979Asp
ENST00000392004.7:c.3540A>T	ENSP00000375861.3:p.Glu1180Asp
ENST00000409809.5:c.3540A>T	ENSP00000386844.1:p.Glu1180Asp
ENST00000472056.5:c.2337A>T	ENSP00000418285.1:p.Glu779Asp
NM_004369.3:c.4158A>T , LRG_473t1:c.4158A>T	NP_004360.2:p.Glu1386Asp
NM_057164.4:c.2937A>T	NP_476505.3:p.Glu979Asp
NM_057165.4:c.3540A>T	NP_476506.3:p.Glu1180Asp
NM_057166.4:c.2337A>T	NP_476507.3:p.Glu779Asp
NM_057167.3:c.3540A>T	NP_476508.2:p.Glu1180Asp
XM_005246065.1:c.3558A>T	XP_005246122.1:p.Glu1186Asp
XM_005246066.1:c.2937A>T	XP_005246123.1:p.Glu979Asp
XM_006712253.1:c.4158A>T	XP_006712316.1:p.Glu1386Asp
XM_011510574.1:c.4158A>T	XP_011508876.1:p.Glu1386Asp
XM_011510575.1:c.1752A>T	XP_011508877.1:p.Glu584Asp
XM_017003304.1:c.1752A>T	XP_016858793.1:p.Glu584Asp
XM_024452684.1:c.2937A>T	XP_024308452.1:p.Glu979Asp
NM_004369.4:c.4158A>T MANE Select	NP_004360.2:p.Glu1386Asp
NM_057164.5:c.2937A>T	NP_476505.3:p.Glu979Asp
NM_057165.5:c.3540A>T	NP_476506.3:p.Glu1180Asp
NM_057166.5:c.2337A>T	NP_476507.3:p.Glu779Asp
NM_057167.4:c.3540A>T	NP_476508.2:p.Glu1180Asp