Canonical Allele Identifier: CA431701715

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 1965151
• ClinVar RCV Id: RCV002740502
• dbSNP Id: rs1338113888
• gnomAD v2: 2-238244959-G-A
• gnomAD v3: 2-237336316-G-A
• gnomAD v4: 2-237336316-G-A
• MyVariant Identifiers: chr2:g.238244959G>A (hg19) ; chr2:g.237336316G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336316G>A , CM000664.2:g.237336316G>A	GRCh38
NC_000002.11:g.238244959G>A , CM000664.1:g.238244959G>A	GRCh37
NC_000002.10:g.237909698G>A	NCBI36
NG_008676.1:g.82892C>T , LRG_473:g.82892C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1429C>T
ENST00000353578.9:c.8166C>T	ENSP00000315873.4:p.Ala2722=
ENST00000682957.1:c.911C>T
ENST00000684508.1:n.1051C>T
ENST00000295550.9:c.8784C>T MANE Select	ENSP00000295550.4:p.Ala2928=
ENST00000295550.8:c.8784C>T	ENSP00000295550.4:p.Ala2928=
ENST00000347401.7:c.6960C>T	ENSP00000315609.4:p.Ala2320=
ENST00000353578.8:c.8166C>T	ENSP00000315873.4:p.Ala2722=
ENST00000409809.5:c.8166C>T	ENSP00000386844.1:p.Ala2722=
ENST00000472056.5:c.6963C>T	ENSP00000418285.1:p.Ala2321=
ENST00000491769.1:n.5226C>T
NM_004369.3:c.8784C>T , LRG_473t1:c.8784C>T	NP_004360.2:p.Ala2928=
NM_057166.4:c.6963C>T	NP_476507.3:p.Ala2321=
NM_057167.3:c.8166C>T	NP_476508.2:p.Ala2722=
XM_005246065.1:c.8184C>T	XP_005246122.1:p.Ala2728=
XM_005246066.1:c.7563C>T	XP_005246123.1:p.Ala2521=
XM_006712253.1:c.8283C>T	XP_006712316.1:p.Ala2761=
XM_011510574.1:c.8781C>T	XP_011508876.1:p.Ala2927=
XM_011510575.1:c.6378C>T	XP_011508877.1:p.Ala2126=
XM_017003304.1:c.6378C>T	XP_016858793.1:p.Ala2126=
XM_024452684.1:c.7563C>T	XP_024308452.1:p.Ala2521=
NM_004369.4:c.8784C>T MANE Select	NP_004360.2:p.Ala2928=
NM_057166.5:c.6963C>T	NP_476507.3:p.Ala2321=
NM_057167.4:c.8166C>T	NP_476508.2:p.Ala2722=