Canonical Allele Identifier: CA351191901

Gene: COL6A3

Linked Data

• dbSNP Id: rs1373824728
• gnomAD v3: 2-237336441-T-A
• gnomAD v4: 2-237336441-T-A
• MyVariant Identifiers: chr2:g.238245084T>A (hg19) ; chr2:g.237336441T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336441T>A , CM000664.2:g.237336441T>A	GRCh38
NC_000002.11:g.238245084T>A , CM000664.1:g.238245084T>A	GRCh37
NC_000002.10:g.237909823T>A	NCBI36
NG_008676.1:g.82767A>T , LRG_473:g.82767A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1304A>T
ENST00000353578.9:c.8041A>T	ENSP00000315873.4:p.Thr2681Ser
ENST00000682957.1:c.786A>T
ENST00000684508.1:n.926A>T
ENST00000295550.9:c.8659A>T MANE Select	ENSP00000295550.4:p.Thr2887Ser
ENST00000295550.8:c.8659A>T	ENSP00000295550.4:p.Thr2887Ser
ENST00000347401.7:c.6835A>T	ENSP00000315609.4:p.Thr2279Ser
ENST00000353578.8:c.8041A>T	ENSP00000315873.4:p.Thr2681Ser
ENST00000409809.5:c.8041A>T	ENSP00000386844.1:p.Thr2681Ser
ENST00000472056.5:c.6838A>T	ENSP00000418285.1:p.Thr2280Ser
ENST00000491769.1:n.5101A>T
NM_004369.3:c.8659A>T , LRG_473t1:c.8659A>T	NP_004360.2:p.Thr2887Ser
NM_057166.4:c.6838A>T	NP_476507.3:p.Thr2280Ser
NM_057167.3:c.8041A>T	NP_476508.2:p.Thr2681Ser
XM_005246065.1:c.8059A>T	XP_005246122.1:p.Thr2687Ser
XM_005246066.1:c.7438A>T	XP_005246123.1:p.Thr2480Ser
XM_006712253.1:c.8158A>T	XP_006712316.1:p.Thr2720Ser
XM_011510574.1:c.8656A>T	XP_011508876.1:p.Thr2886Ser
XM_011510575.1:c.6253A>T	XP_011508877.1:p.Thr2085Ser
XM_017003304.1:c.6253A>T	XP_016858793.1:p.Thr2085Ser
XM_024452684.1:c.7438A>T	XP_024308452.1:p.Thr2480Ser
NM_004369.4:c.8659A>T MANE Select	NP_004360.2:p.Thr2887Ser
NM_057166.5:c.6838A>T	NP_476507.3:p.Thr2280Ser
NM_057167.4:c.8041A>T	NP_476508.2:p.Thr2681Ser