Canonical Allele Identifier: CA431698503

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237336178-T-C
• MyVariant Identifiers: chr2:g.238244821T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336178T>C , CM000664.2:g.237336178T>C	GRCh38
NC_000002.11:g.238244821T>C , CM000664.1:g.238244821T>C	GRCh37
NC_000002.10:g.237909560T>C	NCBI36
NG_008676.1:g.83030A>G , LRG_473:g.83030A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1567A>G
ENST00000353578.9:c.8304A>G	ENSP00000315873.4:p.Ala2768=
ENST00000682957.1:c.1049A>G
ENST00000684508.1:n.1189A>G
ENST00000295550.9:c.8922A>G MANE Select	ENSP00000295550.4:p.Ala2974=
ENST00000295550.8:c.8922A>G	ENSP00000295550.4:p.Ala2974=
ENST00000347401.7:c.7098A>G	ENSP00000315609.4:p.Ala2366=
ENST00000353578.8:c.8304A>G	ENSP00000315873.4:p.Ala2768=
ENST00000409809.5:c.8304A>G	ENSP00000386844.1:p.Ala2768=
ENST00000472056.5:c.7101A>G	ENSP00000418285.1:p.Ala2367=
ENST00000491769.1:n.5364A>G
NM_004369.3:c.8922A>G , LRG_473t1:c.8922A>G	NP_004360.2:p.Ala2974=
NM_057166.4:c.7101A>G	NP_476507.3:p.Ala2367=
NM_057167.3:c.8304A>G	NP_476508.2:p.Ala2768=
XM_005246065.1:c.8322A>G	XP_005246122.1:p.Ala2774=
XM_005246066.1:c.7701A>G	XP_005246123.1:p.Ala2567=
XM_006712253.1:c.8421A>G	XP_006712316.1:p.Ala2807=
XM_011510574.1:c.8919A>G	XP_011508876.1:p.Ala2973=
XM_011510575.1:c.6516A>G	XP_011508877.1:p.Ala2172=
XM_017003304.1:c.6516A>G	XP_016858793.1:p.Ala2172=
XM_024452684.1:c.7701A>G	XP_024308452.1:p.Ala2567=
NM_004369.4:c.8922A>G MANE Select	NP_004360.2:p.Ala2974=
NM_057166.5:c.7101A>G	NP_476507.3:p.Ala2367=
NM_057167.4:c.8304A>G	NP_476508.2:p.Ala2768=