Canonical Allele Identifier: CA351187869

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237366936-T-C
• MyVariant Identifiers: chr2:g.238275579T>C (hg19) ; chr2:g.237366936T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237366936T>C , CM000664.2:g.237366936T>C	GRCh38
NC_000002.11:g.238275579T>C , CM000664.1:g.238275579T>C	GRCh37
NC_000002.10:g.237940318T>C	NCBI36
NG_008676.1:g.52272A>G , LRG_473:g.52272A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.4633A>G	ENSP00000315873.4:p.Thr1545Ala
ENST00000295550.9:c.5251A>G MANE Select	ENSP00000295550.4:p.Thr1751Ala
ENST00000295550.8:c.5251A>G	ENSP00000295550.4:p.Thr1751Ala
ENST00000347401.7:c.3430A>G	ENSP00000315609.4:p.Thr1144Ala
ENST00000353578.8:c.4633A>G	ENSP00000315873.4:p.Thr1545Ala
ENST00000409809.5:c.4633A>G	ENSP00000386844.1:p.Thr1545Ala
ENST00000472056.5:c.3430A>G	ENSP00000418285.1:p.Thr1144Ala
NM_004369.3:c.5251A>G , LRG_473t1:c.5251A>G	NP_004360.2:p.Thr1751Ala
NM_057166.4:c.3430A>G	NP_476507.3:p.Thr1144Ala
NM_057167.3:c.4633A>G	NP_476508.2:p.Thr1545Ala
XM_005246065.1:c.4651A>G	XP_005246122.1:p.Thr1551Ala
XM_005246066.1:c.4030A>G	XP_005246123.1:p.Thr1344Ala
XM_006712253.1:c.4750A>G	XP_006712316.1:p.Thr1584Ala
XM_011510574.1:c.5248A>G	XP_011508876.1:p.Thr1750Ala
XM_011510575.1:c.2845A>G	XP_011508877.1:p.Thr949Ala
XM_017003304.1:c.2845A>G	XP_016858793.1:p.Thr949Ala
XM_024452684.1:c.4030A>G	XP_024308452.1:p.Thr1344Ala
NM_004369.4:c.5251A>G MANE Select	NP_004360.2:p.Thr1751Ala
NM_057166.5:c.3430A>G	NP_476507.3:p.Thr1144Ala
NM_057167.4:c.4633A>G	NP_476508.2:p.Thr1545Ala