Canonical Allele Identifier: CA351756383
Gene: VHL HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.10149879G>C
GRCh37 chr3:g.10191563G>C
Revel Score:
ENST00000256474 (MANE Select) 0.705
ENST00000345392 0.705
ENST00000450183 0.705
ClinVar RCV:
RCV001316784
ClinVar Variation:
1017610
dbSNP:
367545984
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149879G>C , CM000665.2:g.10149879G>C GRCh38
NC_000003.11:g.10191563G>C , CM000665.1:g.10191563G>C GRCh37
NC_000003.10:g.10166563G>C NCBI36
NG_008212.3:g.13245G>C , LRG_322:g.13245G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*233G>C ENSP00000512434.1:n.*233G>C
ENST00000696143.1:c.692G>C ENSP00000512435.1:n.692G>C
ENST00000696153.1:c.667G>C ENSP00000512444.1:p.Glu223Gln
ENST00000256474.3:c.556G>C MANE Select ENSP00000256474.3:p.Glu186Gln
ENST00000256474.2:c.556G>C ENSP00000256474.2:p.Glu186Gln
ENST00000345392.2:c.433G>C ENSP00000344757.2:p.Glu145Gln
ENST00000477538.1:n.692G>C
NM_000551.3:c.556G>C , LRG_322t1:c.556G>C NP_000542.1:p.Glu186Gln
NM_198156.2:c.433G>C NP_937799.1:p.Glu145Gln
NM_001354723.1:c.*110G>C NP_001341652.1:n.*110G>C
NM_000551.4:c.556G>C MANE Select NP_000542.1:p.Glu186Gln
NM_001354723.2:c.*110G>C NP_001341652.1:n.*110G>C
NM_198156.3:c.433G>C NP_937799.1:p.Glu145Gln
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