Canonical Allele Identifier: CA10620926

Gene: VCAN

Linked Data

• ClinVar Variation Id: 354488
• ClinVar RCV Id: RCV000267030 ; RCV000301952
• dbSNP Id: rs548595991
• gnomAD v2: 5-82877284-T-C
• gnomAD v3: 5-83581465-T-C
• gnomAD v4: 5-83581465-T-C
• MyVariant Identifiers: chr5:g.82877284T>C (hg19) ; chr5:g.83581465T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.83581465T>C , CM000667.2:g.83581465T>C	GRCh38
NC_000005.9:g.82877284T>C , CM000667.1:g.82877284T>C	GRCh37
NC_000005.8:g.82913040T>C	NCBI36
NG_012682.1:g.114755T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265077.8:c.*1031T>C MANE Select	ENSP00000265077.3:n.*1031T>C
ENST00000265077.7:c.*1031T>C	ENSP00000265077.3:n.*1031T>C
ENST00000342785.8:c.*1031T>C	ENSP00000342768.4:n.*1031T>C
ENST00000343200.9:c.*1031T>C	ENSP00000340062.5:n.*1031T>C
NM_001126336.2:c.*1031T>C	NP_001119808.1:n.*1031T>C
NM_001164097.1:c.*1031T>C	NP_001157569.1:n.*1031T>C
NM_001164098.1:c.*1031T>C	NP_001157570.1:n.*1031T>C
NM_004385.4:c.*1031T>C	NP_004376.2:n.*1031T>C
NM_004385.5:c.*1031T>C MANE Select	NP_004376.2:n.*1031T>C
NM_001126336.3:c.*1031T>C	NP_001119808.1:n.*1031T>C
NM_001164097.2:c.*1031T>C	NP_001157569.1:n.*1031T>C
NM_001164098.2:c.*1031T>C	NP_001157570.1:n.*1031T>C