Canonical Allele Identifier: CA2250955
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs765313182
ExAC: 3:10188351 G / A
gnomAD v2: 3-10188351-G-A
gnomAD v4: 3-10146667-G-A
MyVariant Identifiers: chr3:g.10188351G>A (hg19) chr3:g.10188351_10188354delinsAGTT (hg19) chr3:g.10146667G>A (hg38) chr3:g.10146667_10146670delinsAGTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146667G>A , CM000665.2:g.10146667G>A GRCh38
NC_000003.11:g.10188351G>A , CM000665.1:g.10188351G>A GRCh37
NC_000003.10:g.10163351G>A NCBI36
NG_008212.3:g.10033G>A , LRG_322:g.10033G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*140+31G>A ENSP00000512434.1:n.*140+31G>A
ENST00000696143.1:c.600-3120G>A ENSP00000512435.1:n.600-3120G>A
ENST00000696153.1:c.463+31G>A ENSP00000512444.1:n.463+31G>A
ENST00000256474.3:c.463+31G>A MANE Select ENSP00000256474.3:n.463+31G>A
ENST00000256474.2:c.463+31G>A ENSP00000256474.2:n.463+31G>A
ENST00000345392.2:c.341-3120G>A ENSP00000344757.2:n.341-3120G>A
ENST00000477538.1:n.599+31G>A
NM_000551.3:c.463+31G>A , LRG_322t1:c.463+31G>A NP_000542.1:n.463+31G>A
NM_198156.2:c.341-3120G>A NP_937799.1:n.341-3120G>A
NM_001354723.1:c.*18-3120G>A NP_001341652.1:n.*18-3120G>A
NM_000551.4:c.463+31G>A MANE Select NP_000542.1:n.463+31G>A
NM_001354723.2:c.*18-3120G>A NP_001341652.1:n.*18-3120G>A
NM_198156.3:c.341-3120G>A NP_937799.1:n.341-3120G>A
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