Canonical Allele Identifier: CA351186126

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238274561T>G (hg19) ; chr2:g.237365918T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237365918T>G , CM000664.2:g.237365918T>G	GRCh38
NC_000002.11:g.238274561T>G , CM000664.1:g.238274561T>G	GRCh37
NC_000002.10:g.237939300T>G	NCBI36
NG_008676.1:g.53290A>C , LRG_473:g.53290A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.5000A>C	ENSP00000315873.4:p.His1667Pro
ENST00000295550.9:c.5618A>C MANE Select	ENSP00000295550.4:p.His1873Pro
ENST00000295550.8:c.5618A>C	ENSP00000295550.4:p.His1873Pro
ENST00000347401.7:c.3797A>C	ENSP00000315609.4:p.His1266Pro
ENST00000353578.8:c.5000A>C	ENSP00000315873.4:p.His1667Pro
ENST00000409809.5:c.5000A>C	ENSP00000386844.1:p.His1667Pro
ENST00000472056.5:c.3797A>C	ENSP00000418285.1:p.His1266Pro
NM_004369.3:c.5618A>C , LRG_473t1:c.5618A>C	NP_004360.2:p.His1873Pro
NM_057166.4:c.3797A>C	NP_476507.3:p.His1266Pro
NM_057167.3:c.5000A>C	NP_476508.2:p.His1667Pro
XM_005246065.1:c.5018A>C	XP_005246122.1:p.His1673Pro
XM_005246066.1:c.4397A>C	XP_005246123.1:p.His1466Pro
XM_006712253.1:c.5117A>C	XP_006712316.1:p.His1706Pro
XM_011510574.1:c.5615A>C	XP_011508876.1:p.His1872Pro
XM_011510575.1:c.3212A>C	XP_011508877.1:p.His1071Pro
XM_017003304.1:c.3212A>C	XP_016858793.1:p.His1071Pro
XM_024452684.1:c.4397A>C	XP_024308452.1:p.His1466Pro
NM_004369.4:c.5618A>C MANE Select	NP_004360.2:p.His1873Pro
NM_057166.5:c.3797A>C	NP_476507.3:p.His1266Pro
NM_057167.4:c.5000A>C	NP_476508.2:p.His1667Pro