Canonical Allele Identifier: CA351201770

Gene: COL6A3

Linked Data

• dbSNP Id: rs1316275443
• gnomAD v2: 2-238253046-T-C
• gnomAD v4: 2-237344403-T-C
• MyVariant Identifiers: chr2:g.238253046T>C (hg19) ; chr2:g.237344403T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344403T>C , CM000664.2:g.237344403T>C	GRCh38
NC_000002.11:g.238253046T>C , CM000664.1:g.238253046T>C	GRCh37
NC_000002.10:g.237917785T>C	NCBI36
NG_008676.1:g.74805A>G , LRG_473:g.74805A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.260A>G
ENST00000353578.9:c.6997A>G	ENSP00000315873.4:p.Thr2333Ala
ENST00000295550.9:c.7615A>G MANE Select	ENSP00000295550.4:p.Thr2539Ala
ENST00000295550.8:c.7615A>G	ENSP00000295550.4:p.Thr2539Ala
ENST00000347401.7:c.5791A>G	ENSP00000315609.4:p.Thr1931Ala
ENST00000353578.8:c.6997A>G	ENSP00000315873.4:p.Thr2333Ala
ENST00000409809.5:c.6997A>G	ENSP00000386844.1:p.Thr2333Ala
ENST00000472056.5:c.5794A>G	ENSP00000418285.1:p.Thr1932Ala
ENST00000491769.1:n.1869A>G
NM_004369.3:c.7615A>G , LRG_473t1:c.7615A>G	NP_004360.2:p.Thr2539Ala
NM_057166.4:c.5794A>G	NP_476507.3:p.Thr1932Ala
NM_057167.3:c.6997A>G	NP_476508.2:p.Thr2333Ala
XM_005246065.1:c.7015A>G	XP_005246122.1:p.Thr2339Ala
XM_005246066.1:c.6394A>G	XP_005246123.1:p.Thr2132Ala
XM_006712253.1:c.7114A>G	XP_006712316.1:p.Thr2372Ala
XM_011510574.1:c.7612A>G	XP_011508876.1:p.Thr2538Ala
XM_011510575.1:c.5209A>G	XP_011508877.1:p.Thr1737Ala
XM_017003304.1:c.5209A>G	XP_016858793.1:p.Thr1737Ala
XM_024452684.1:c.6394A>G	XP_024308452.1:p.Thr2132Ala
NM_004369.4:c.7615A>G MANE Select	NP_004360.2:p.Thr2539Ala
NM_057166.5:c.5794A>G	NP_476507.3:p.Thr1932Ala
NM_057167.4:c.6997A>G	NP_476508.2:p.Thr2333Ala