Canonical Allele Identifier: CA431701500

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237340561-G-T
• MyVariant Identifiers: chr2:g.238249204G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340561G>T , CM000664.2:g.237340561G>T	GRCh38
NC_000002.11:g.238249204G>T , CM000664.1:g.238249204G>T	GRCh37
NC_000002.10:g.237913943G>T	NCBI36
NG_008676.1:g.78647C>A , LRG_473:g.78647C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1000C>A
ENST00000353578.9:c.7737C>A	ENSP00000315873.4:p.Thr2579=
ENST00000682957.1:c.358C>A
ENST00000684508.1:n.622C>A
ENST00000295550.9:c.8355C>A MANE Select	ENSP00000295550.4:p.Thr2785=
ENST00000295550.8:c.8355C>A	ENSP00000295550.4:p.Thr2785=
ENST00000347401.7:c.6531C>A	ENSP00000315609.4:p.Thr2177=
ENST00000353578.8:c.7737C>A	ENSP00000315873.4:p.Thr2579=
ENST00000409809.5:c.7737C>A	ENSP00000386844.1:p.Thr2579=
ENST00000468792.1:n.42C>A
ENST00000472056.5:c.6534C>A	ENSP00000418285.1:p.Thr2178=
ENST00000491769.1:n.4797C>A
NM_004369.3:c.8355C>A , LRG_473t1:c.8355C>A	NP_004360.2:p.Thr2785=
NM_057166.4:c.6534C>A	NP_476507.3:p.Thr2178=
NM_057167.3:c.7737C>A	NP_476508.2:p.Thr2579=
XM_005246065.1:c.7755C>A	XP_005246122.1:p.Thr2585=
XM_005246066.1:c.7134C>A	XP_005246123.1:p.Thr2378=
XM_006712253.1:c.7854C>A	XP_006712316.1:p.Thr2618=
XM_011510574.1:c.8352C>A	XP_011508876.1:p.Thr2784=
XM_011510575.1:c.5949C>A	XP_011508877.1:p.Thr1983=
XM_017003304.1:c.5949C>A	XP_016858793.1:p.Thr1983=
XM_024452684.1:c.7134C>A	XP_024308452.1:p.Thr2378=
NM_004369.4:c.8355C>A MANE Select	NP_004360.2:p.Thr2785=
NM_057166.5:c.6534C>A	NP_476507.3:p.Thr2178=
NM_057167.4:c.7737C>A	NP_476508.2:p.Thr2579=