Canonical Allele Identifier: CA351202594

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238253163T>G (hg19) ; chr2:g.237344520T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344520T>G , CM000664.2:g.237344520T>G	GRCh38
NC_000002.11:g.238253163T>G , CM000664.1:g.238253163T>G	GRCh37
NC_000002.10:g.237917902T>G	NCBI36
NG_008676.1:g.74688A>C , LRG_473:g.74688A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.143A>C
ENST00000353578.9:c.6880A>C	ENSP00000315873.4:p.Lys2294Gln
ENST00000295550.9:c.7498A>C MANE Select	ENSP00000295550.4:p.Lys2500Gln
ENST00000295550.8:c.7498A>C	ENSP00000295550.4:p.Lys2500Gln
ENST00000347401.7:c.5674A>C	ENSP00000315609.4:p.Lys1892Gln
ENST00000353578.8:c.6880A>C	ENSP00000315873.4:p.Lys2294Gln
ENST00000409809.5:c.6880A>C	ENSP00000386844.1:p.Lys2294Gln
ENST00000472056.5:c.5677A>C	ENSP00000418285.1:p.Lys1893Gln
ENST00000491769.1:n.1752A>C
NM_004369.3:c.7498A>C , LRG_473t1:c.7498A>C	NP_004360.2:p.Lys2500Gln
NM_057166.4:c.5677A>C	NP_476507.3:p.Lys1893Gln
NM_057167.3:c.6880A>C	NP_476508.2:p.Lys2294Gln
XM_005246065.1:c.6898A>C	XP_005246122.1:p.Lys2300Gln
XM_005246066.1:c.6277A>C	XP_005246123.1:p.Lys2093Gln
XM_006712253.1:c.6997A>C	XP_006712316.1:p.Lys2333Gln
XM_011510574.1:c.7495A>C	XP_011508876.1:p.Lys2499Gln
XM_011510575.1:c.5092A>C	XP_011508877.1:p.Lys1698Gln
XM_017003304.1:c.5092A>C	XP_016858793.1:p.Lys1698Gln
XM_024452684.1:c.6277A>C	XP_024308452.1:p.Lys2093Gln
NM_004369.4:c.7498A>C MANE Select	NP_004360.2:p.Lys2500Gln
NM_057166.5:c.5677A>C	NP_476507.3:p.Lys1893Gln
NM_057167.4:c.6880A>C	NP_476508.2:p.Lys2294Gln