Canonical Allele Identifier: CA814704685
Gene: VCAN HGNC NCBI

Linked Data

dbSNP Id: rs1356746033
gnomAD v3: 5-83498118-T-C
gnomAD v4: 5-83498118-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.83498118T>C , CM000667.2:g.83498118T>C GRCh38
NC_000005.9:g.82793937T>C , CM000667.1:g.82793937T>C GRCh37
NC_000005.8:g.82829693T>C NCBI36
NG_012682.1:g.31408T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265077.8:c.748+4187T>C MANE Select ENSP00000265077.3:n.748+4187T>C
ENST00000265077.7:c.748+4187T>C ENSP00000265077.3:n.748+4187T>C
ENST00000342785.8:c.748+4187T>C ENSP00000342768.4:n.748+4187T>C
ENST00000343200.9:c.748+4187T>C ENSP00000340062.5:n.748+4187T>C
ENST00000502527.2:c.748+4187T>C ENSP00000421362.2:n.748+4187T>C
ENST00000512590.6:c.604+4187T>C ENSP00000425959.2:n.604+4187T>C
ENST00000513960.5:c.748+4187T>C ENSP00000426251.1:n.748+4187T>C
ENST00000513984.5:c.748+4187T>C ENSP00000426715.1:n.748+4187T>C
NM_001126336.2:c.748+4187T>C NP_001119808.1:n.748+4187T>C
NM_001164097.1:c.748+4187T>C NP_001157569.1:n.748+4187T>C
NM_001164098.1:c.748+4187T>C NP_001157570.1:n.748+4187T>C
NM_004385.4:c.748+4187T>C NP_004376.2:n.748+4187T>C
NM_004385.5:c.748+4187T>C MANE Select NP_004376.2:n.748+4187T>C
NM_001126336.3:c.748+4187T>C NP_001119808.1:n.748+4187T>C
NM_001164097.2:c.748+4187T>C NP_001157569.1:n.748+4187T>C
NM_001164098.2:c.748+4187T>C NP_001157570.1:n.748+4187T>C