Canonical Allele Identifier: CA9949203

Gene: COL9A3

Linked Data

• ClinVar Variation Id: 373195
• ClinVar RCV Id: RCV000413769
• dbSNP Id: rs766029215
• ExAC: 20:61452883 G / A
• gnomAD v2: 20-61452883-G-A
• gnomAD v4: 20-62821531-G-A
• COSMIC: COSM3701655
• MyVariant Identifiers: chr20:g.61452883G>A (hg19) ; chr20:g.62821531G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62821531G>A , CM000682.2:g.62821531G>A	GRCh38
NC_000020.10:g.61452883G>A , CM000682.1:g.61452883G>A	GRCh37
NC_000020.9:g.60923328G>A	NCBI36
NG_016353.1:g.9470G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000452372.2:c.258+1G>A	ENSP00000394280.1:n.258+1G>A
ENST00000649368.1:c.369+1G>A MANE Select	ENSP00000496793.1:n.369+1G>A
ENST00000343916.7:c.369+1G>A	ENSP00000341640.3:n.369+1G>A
ENST00000452372.1:c.258+1G>A	ENSP00000394280.1:n.258+1G>A
ENST00000477612.5:n.365+1G>A
ENST00000489045.5:n.415+1G>A
NM_001853.3:c.369+1G>A	NP_001844.3:n.369+1G>A
XM_011528543.1:c.369+1G>A	XP_011526845.1:n.369+1G>A
XM_011528544.1:c.162+1G>A	XP_011526846.1:n.162+1G>A
XM_011528545.1:c.369+1G>A	XP_011526847.1:n.369+1G>A
XM_011528546.1:c.369+1G>A	XP_011526848.1:n.369+1G>A
XM_011528547.1:c.369+1G>A	XP_011526849.1:n.369+1G>A
XR_936499.1:n.370+1G>A
NM_001853.4:c.369+1G>A MANE Select	NP_001844.3:n.369+1G>A
XM_017027666.1:c.369+1G>A	XP_016883155.1:n.369+1G>A