Canonical Allele Identifier: CA222671

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 95020
• ClinVar RCV Id: RCV000246392 ; RCV000723448
• dbSNP Id: rs398124137
• ExAC: 2:238234400 G / A
• gnomAD v2: 2-238234400-G-A
• gnomAD v3: 2-237325757-G-A
• gnomAD v4: 2-237325757-G-A
• MyVariant Identifiers: chr2:g.238234400G>A (hg19) ; chr2:g.237325757G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237325757G>A , CM000664.2:g.237325757G>A	GRCh38
NC_000002.11:g.238234400G>A , CM000664.1:g.238234400G>A	GRCh37
NC_000002.10:g.237899139G>A	NCBI36
NG_008676.1:g.93451C>T , LRG_473:g.93451C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.1710-33C>T
ENST00000353578.9:c.8711-33C>T	ENSP00000315873.4:n.8711-33C>T
ENST00000682957.1:c.1456-33C>T
ENST00000683348.1:c.195-33C>T	ENSP00000508058.1:n.195-33C>T
ENST00000295550.9:c.9329-33C>T MANE Select	ENSP00000295550.4:n.9329-33C>T
ENST00000295550.8:c.9329-33C>T	ENSP00000295550.4:n.9329-33C>T
ENST00000347401.7:c.7505-33C>T	ENSP00000315609.4:n.7505-33C>T
ENST00000353578.8:c.8711-33C>T	ENSP00000315873.4:n.8711-33C>T
ENST00000409809.5:c.8711-33C>T	ENSP00000386844.1:n.8711-33C>T
ENST00000472056.5:c.7508-33C>T	ENSP00000418285.1:n.7508-33C>T
ENST00000473258.1:n.4424C>T
ENST00000491769.1:n.5771-33C>T
NM_004369.3:c.9329-33C>T , LRG_473t1:c.9329-33C>T	NP_004360.2:n.9329-33C>T
NM_057166.4:c.7508-33C>T	NP_476507.3:n.7508-33C>T
NM_057167.3:c.8711-33C>T	NP_476508.2:n.8711-33C>T
XM_005246065.1:c.8729-33C>T	XP_005246122.1:n.8729-33C>T
XM_005246066.1:c.8108-33C>T	XP_005246123.1:n.8108-33C>T
XM_006712253.1:c.8828-33C>T	XP_006712316.1:n.8828-33C>T
XM_011510574.1:c.9326-33C>T	XP_011508876.1:n.9326-33C>T
XM_011510575.1:c.6923-33C>T	XP_011508877.1:n.6923-33C>T
XM_017003304.1:c.6923-33C>T	XP_016858793.1:n.6923-33C>T
XM_024452684.1:c.8108-33C>T	XP_024308452.1:n.8108-33C>T
NM_004369.4:c.9329-33C>T MANE Select	NP_004360.2:n.9329-33C>T
NM_057166.5:c.7508-33C>T	NP_476507.3:n.7508-33C>T
NM_057167.4:c.8711-33C>T	NP_476508.2:n.8711-33C>T