Canonical Allele Identifier: CA1045001898
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs1696464491
gnomAD v3: 3-10153318-G-A
gnomAD v4: 3-10153318-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10153318G>A , CM000665.2:g.10153318G>A GRCh38
NC_000003.11:g.10195002G>A , CM000665.1:g.10195002G>A GRCh37
NC_000003.10:g.10170002G>A NCBI36
NG_008212.3:g.16684G>A , LRG_322:g.16684G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696153.1:c.*3353G>A ENSP00000512444.1:n.*3353G>A
ENST00000256474.3:c.*3353G>A MANE Select ENSP00000256474.3:n.*3353G>A
NM_000551.3:c.*3353G>A , LRG_322t1:c.*3353G>A NP_000542.1:n.*3353G>A
NM_198156.2:c.*3353G>A NP_937799.1:n.*3353G>A
NM_001354723.1:c.*3549G>A NP_001341652.1:n.*3549G>A
NM_000551.4:c.*3353G>A MANE Select NP_000542.1:n.*3353G>A
NM_001354723.2:c.*3549G>A NP_001341652.1:n.*3549G>A
NM_198156.3:c.*3353G>A NP_937799.1:n.*3353G>A
Search 100 bp 5'
Search 100 bp 3'