Canonical Allele Identifier: CA351191009

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237336174-T-C
• MyVariant Identifiers: chr2:g.238244817T>C (hg19) ; chr2:g.237336174T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336174T>C , CM000664.2:g.237336174T>C	GRCh38
NC_000002.11:g.238244817T>C , CM000664.1:g.238244817T>C	GRCh37
NC_000002.10:g.237909556T>C	NCBI36
NG_008676.1:g.83034A>G , LRG_473:g.83034A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1571A>G
ENST00000353578.9:c.8308A>G	ENSP00000315873.4:p.Lys2770Glu
ENST00000682957.1:c.1053A>G
ENST00000684508.1:n.1193A>G
ENST00000295550.9:c.8926A>G MANE Select	ENSP00000295550.4:p.Lys2976Glu
ENST00000295550.8:c.8926A>G	ENSP00000295550.4:p.Lys2976Glu
ENST00000347401.7:c.7102A>G	ENSP00000315609.4:p.Lys2368Glu
ENST00000353578.8:c.8308A>G	ENSP00000315873.4:p.Lys2770Glu
ENST00000409809.5:c.8308A>G	ENSP00000386844.1:p.Lys2770Glu
ENST00000472056.5:c.7105A>G	ENSP00000418285.1:p.Lys2369Glu
ENST00000491769.1:n.5368A>G
NM_004369.3:c.8926A>G , LRG_473t1:c.8926A>G	NP_004360.2:p.Lys2976Glu
NM_057166.4:c.7105A>G	NP_476507.3:p.Lys2369Glu
NM_057167.3:c.8308A>G	NP_476508.2:p.Lys2770Glu
XM_005246065.1:c.8326A>G	XP_005246122.1:p.Lys2776Glu
XM_005246066.1:c.7705A>G	XP_005246123.1:p.Lys2569Glu
XM_006712253.1:c.8425A>G	XP_006712316.1:p.Lys2809Glu
XM_011510574.1:c.8923A>G	XP_011508876.1:p.Lys2975Glu
XM_011510575.1:c.6520A>G	XP_011508877.1:p.Lys2174Glu
XM_017003304.1:c.6520A>G	XP_016858793.1:p.Lys2174Glu
XM_024452684.1:c.7705A>G	XP_024308452.1:p.Lys2569Glu
NM_004369.4:c.8926A>G MANE Select	NP_004360.2:p.Lys2976Glu
NM_057166.5:c.7105A>G	NP_476507.3:p.Lys2369Glu
NM_057167.4:c.8308A>G	NP_476508.2:p.Lys2770Glu