Canonical Allele Identifier: CA360295833
Community Standard Title: NM_004385.5(VCAN):c.370G>C (p.Asp124His)
Gene: VCAN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.83490397G>C , CM000667.2:g.83490397G>C GRCh38
NC_000005.9:g.82786216G>C , CM000667.1:g.82786216G>C GRCh37
NC_000005.8:g.82821972G>C NCBI36
NG_012682.1:g.23687G>C

Transcript Alleles

HGVS Amino-acid Change
NM_004385.5:c.370G>C MANE Select NP_004376.2:p.Asp124His
ENST00000265077.8:c.370G>C MANE Select ENSP00000265077.3:p.Asp124His
NM_001126336.2:c.370G>C NP_001119808.1:p.Asp124His
NM_001126336.3:c.370G>C NP_001119808.1:p.Asp124His
NM_001164097.1:c.370G>C NP_001157569.1:p.Asp124His
NM_001164097.2:c.370G>C NP_001157569.1:p.Asp124His
NM_001164098.1:c.370G>C NP_001157570.1:p.Asp124His
NM_001164098.2:c.370G>C NP_001157570.1:p.Asp124His
NM_004385.4:c.370G>C NP_004376.2:p.Asp124His
ENST00000265077.7:c.370G>C ENSP00000265077.3:p.Asp124His
ENST00000342785.8:c.370G>C ENSP00000342768.4:p.Asp124His
ENST00000343200.9:c.370G>C ENSP00000340062.5:p.Asp124His
ENST00000502527.2:c.370G>C ENSP00000421362.2:p.Asp124His
ENST00000512590.6:c.226G>C ENSP00000425959.2:p.Asp76His
ENST00000513960.5:c.370G>C ENSP00000426251.1:p.Asp124His
ENST00000513984.5:c.370G>C ENSP00000426715.1:p.Asp124His