Canonical Allele Identifier: CA431698577

Gene: COL6A3

Linked Data

• dbSNP Id: rs1700439475
• gnomAD v4: 2-237334681-C-T
• MyVariant Identifiers: chr2:g.238243324C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334681C>T , CM000664.2:g.237334681C>T	GRCh38
NC_000002.11:g.238243324C>T , CM000664.1:g.238243324C>T	GRCh37
NC_000002.10:g.237908063C>T	NCBI36
NG_008676.1:g.84527G>A , LRG_473:g.84527G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1611-1133G>A
ENST00000353578.9:c.8556G>A	ENSP00000315873.4:p.Val2852=
ENST00000682957.1:c.1301G>A
ENST00000683348.1:c.42G>A	ENSP00000508058.1:p.Val14=
ENST00000295550.9:c.9174G>A MANE Select	ENSP00000295550.4:p.Val3058=
ENST00000295550.8:c.9174G>A	ENSP00000295550.4:p.Val3058=
ENST00000347401.7:c.7350G>A	ENSP00000315609.4:p.Val2450=
ENST00000353578.8:c.8556G>A	ENSP00000315873.4:p.Val2852=
ENST00000409809.5:c.8556G>A	ENSP00000386844.1:p.Val2852=
ENST00000472056.5:c.7353G>A	ENSP00000418285.1:p.Val2451=
ENST00000491769.1:n.5616G>A
ENST00000493608.1:n.106G>A
NM_004369.3:c.9174G>A , LRG_473t1:c.9174G>A	NP_004360.2:p.Val3058=
NM_057166.4:c.7353G>A	NP_476507.3:p.Val2451=
NM_057167.3:c.8556G>A	NP_476508.2:p.Val2852=
XM_005246065.1:c.8574G>A	XP_005246122.1:p.Val2858=
XM_005246066.1:c.7953G>A	XP_005246123.1:p.Val2651=
XM_006712253.1:c.8673G>A	XP_006712316.1:p.Val2891=
XM_011510574.1:c.9171G>A	XP_011508876.1:p.Val3057=
XM_011510575.1:c.6768G>A	XP_011508877.1:p.Val2256=
XM_017003304.1:c.6768G>A	XP_016858793.1:p.Val2256=
XM_024452684.1:c.7953G>A	XP_024308452.1:p.Val2651=
NM_004369.4:c.9174G>A MANE Select	NP_004360.2:p.Val3058=
NM_057166.5:c.7353G>A	NP_476507.3:p.Val2451=
NM_057167.4:c.8556G>A	NP_476508.2:p.Val2852=