Canonical Allele Identifier: CA351201431

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238252993C>G (hg19) ; chr2:g.237344350C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344350C>G , CM000664.2:g.237344350C>G	GRCh38
NC_000002.11:g.238252993C>G , CM000664.1:g.238252993C>G	GRCh37
NC_000002.10:g.237917732C>G	NCBI36
NG_008676.1:g.74858G>C , LRG_473:g.74858G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.313G>C
ENST00000353578.9:c.7050G>C	ENSP00000315873.4:p.Gln2350His
ENST00000295550.9:c.7668G>C MANE Select	ENSP00000295550.4:p.Gln2556His
ENST00000295550.8:c.7668G>C	ENSP00000295550.4:p.Gln2556His
ENST00000347401.7:c.5844G>C	ENSP00000315609.4:p.Gln1948His
ENST00000353578.8:c.7050G>C	ENSP00000315873.4:p.Gln2350His
ENST00000409809.5:c.7050G>C	ENSP00000386844.1:p.Gln2350His
ENST00000472056.5:c.5847G>C	ENSP00000418285.1:p.Gln1949His
ENST00000491769.1:n.1922G>C
NM_004369.3:c.7668G>C , LRG_473t1:c.7668G>C	NP_004360.2:p.Gln2556His
NM_057166.4:c.5847G>C	NP_476507.3:p.Gln1949His
NM_057167.3:c.7050G>C	NP_476508.2:p.Gln2350His
XM_005246065.1:c.7068G>C	XP_005246122.1:p.Gln2356His
XM_005246066.1:c.6447G>C	XP_005246123.1:p.Gln2149His
XM_006712253.1:c.7167G>C	XP_006712316.1:p.Gln2389His
XM_011510574.1:c.7665G>C	XP_011508876.1:p.Gln2555His
XM_011510575.1:c.5262G>C	XP_011508877.1:p.Gln1754His
XM_017003304.1:c.5262G>C	XP_016858793.1:p.Gln1754His
XM_024452684.1:c.6447G>C	XP_024308452.1:p.Gln2149His
NM_004369.4:c.7668G>C MANE Select	NP_004360.2:p.Gln2556His
NM_057166.5:c.5847G>C	NP_476507.3:p.Gln1949His
NM_057167.4:c.7050G>C	NP_476508.2:p.Gln2350His