Canonical Allele Identifier: CA3332953

Gene: VCAN VCAN-AS1

Linked Data

• ClinVar Variation Id: 354412
• ClinVar RCV Id: RCV000270899 ; RCV000332965 ; RCV002058537 ; RCV002523536 ; RCV003922561
• dbSNP Id: rs201255257
• ExAC: 5:82817219 C / G
• gnomAD v2: 5-82817219-C-G
• gnomAD v3: 5-83521400-C-G
• gnomAD v4: 5-83521400-C-G
• COSMIC: COSM1311364
• MyVariant Identifiers: chr5:g.82817219C>G (hg19) ; chr5:g.83521400C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.83521400C>G , CM000667.2:g.83521400C>G	GRCh38
NC_000005.9:g.82817219C>G , CM000667.1:g.82817219C>G	GRCh37
NC_000005.8:g.82852975C>G	NCBI36
NG_012682.1:g.54690C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265077.8:c.3094C>G (VCAN) MANE Select	ENSP00000265077.3:p.Gln1032Glu
ENST00000265077.7:c.3094C>G (VCAN)	ENSP00000265077.3:p.Gln1032Glu
ENST00000342785.8:c.3094C>G (VCAN)	ENSP00000342768.4:p.Gln1032Glu
ENST00000343200.9:c.1042+9004C>G (VCAN)	ENSP00000340062.5:n.1042+9004C>G
ENST00000502527.2:c.1042+9004C>G (VCAN)	ENSP00000421362.2:n.1042+9004C>G
ENST00000512590.6:c.2950C>G (VCAN)	ENSP00000425959.2:p.Gln984Glu
ENST00000513960.5:c.1042+9004C>G (VCAN)	ENSP00000426251.1:n.1042+9004C>G
ENST00000515397.1:n.295+9004C>G (VCAN)
NM_001126336.2:c.1042+9004C>G (VCAN)	NP_001119808.1:n.1042+9004C>G
NM_001164097.1:c.1042+9004C>G (VCAN)	NP_001157569.1:n.1042+9004C>G
NM_001164098.1:c.3094C>G (VCAN)	NP_001157570.1:p.Gln1032Glu
NM_004385.4:c.3094C>G (VCAN)	NP_004376.2:p.Gln1032Glu
XM_011543776.1:c.453+5826G>C (VCAN-AS1)	XP_011542078.1:n.453+5826G>C
XM_011543777.1:c.444+5826G>C (VCAN-AS1)	XP_011542079.1:n.444+5826G>C
XM_011543778.1:c.453+5826G>C (VCAN-AS1)	XP_011542080.1:n.453+5826G>C
XM_011543779.1:c.481+2043G>C (VCAN-AS1)	XP_011542081.1:n.481+2043G>C
XM_011543780.1:c.249+5826G>C (VCAN-AS1)	XP_011542082.1:n.249+5826G>C
XM_011543781.1:c.453+5826G>C (VCAN-AS1)	XP_011542083.1:n.453+5826G>C
XM_011543782.1:c.319+2043G>C (VCAN-AS1)	XP_011542084.1:n.319+2043G>C
XR_948512.1:n.838+2043G>C (VCAN-AS1)
XR_948513.1:n.7419-1232G>C (VCAN-AS1)
XR_948514.1:n.7428-1232G>C (VCAN-AS1)
XR_948515.1:n.4737-1232G>C (VCAN-AS1)
XR_948516.1:n.3483-1232G>C (VCAN-AS1)
NM_004385.5:c.3094C>G (VCAN) MANE Select	NP_004376.2:p.Gln1032Glu
NM_001126336.3:c.1042+9004C>G (VCAN)	NP_001119808.1:n.1042+9004C>G
NM_001164097.2:c.1042+9004C>G (VCAN)	NP_001157569.1:n.1042+9004C>G
NM_001164098.2:c.3094C>G (VCAN)	NP_001157570.1:p.Gln1032Glu