Canonical Allele Identifier: CA560879619

Gene: VCAN

Linked Data

• dbSNP Id: rs1283307260
• gnomAD v2: 5-82793960-C-T
• gnomAD v3: 5-83498141-C-T
• gnomAD v4: 5-83498141-C-T
• MyVariant Identifiers: chr5:g.82793960C>T (hg19) ; chr5:g.83498141C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.83498141C>T , CM000667.2:g.83498141C>T	GRCh38
NC_000005.9:g.82793960C>T , CM000667.1:g.82793960C>T	GRCh37
NC_000005.8:g.82829716C>T	NCBI36
NG_012682.1:g.31431C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265077.8:c.748+4210C>T MANE Select	ENSP00000265077.3:n.748+4210C>T
ENST00000265077.7:c.748+4210C>T	ENSP00000265077.3:n.748+4210C>T
ENST00000342785.8:c.748+4210C>T	ENSP00000342768.4:n.748+4210C>T
ENST00000343200.9:c.748+4210C>T	ENSP00000340062.5:n.748+4210C>T
ENST00000502527.2:c.748+4210C>T	ENSP00000421362.2:n.748+4210C>T
ENST00000512590.6:c.604+4210C>T	ENSP00000425959.2:n.604+4210C>T
ENST00000513960.5:c.748+4210C>T	ENSP00000426251.1:n.748+4210C>T
ENST00000513984.5:c.748+4210C>T	ENSP00000426715.1:n.748+4210C>T
NM_001126336.2:c.748+4210C>T	NP_001119808.1:n.748+4210C>T
NM_001164097.1:c.748+4210C>T	NP_001157569.1:n.748+4210C>T
NM_001164098.1:c.748+4210C>T	NP_001157570.1:n.748+4210C>T
NM_004385.4:c.748+4210C>T	NP_004376.2:n.748+4210C>T
NM_004385.5:c.748+4210C>T MANE Select	NP_004376.2:n.748+4210C>T
NM_001126336.3:c.748+4210C>T	NP_001119808.1:n.748+4210C>T
NM_001164097.2:c.748+4210C>T	NP_001157569.1:n.748+4210C>T
NM_001164098.2:c.748+4210C>T	NP_001157570.1:n.748+4210C>T