Canonical Allele Identifier: CA1345065843
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs1696461900
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10153283A>C , CM000665.2:g.10153283A>C GRCh38
NC_000003.11:g.10194967A>C , CM000665.1:g.10194967A>C GRCh37
NC_000003.10:g.10169967A>C NCBI36
NG_008212.3:g.16649A>C , LRG_322:g.16649A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696153.1:c.*3318A>C ENSP00000512444.1:n.*3318A>C
ENST00000256474.3:c.*3318A>C MANE Select ENSP00000256474.3:n.*3318A>C
NM_000551.3:c.*3318A>C , LRG_322t1:c.*3318A>C NP_000542.1:n.*3318A>C
NM_198156.2:c.*3318A>C NP_937799.1:n.*3318A>C
NM_001354723.1:c.*3514A>C NP_001341652.1:n.*3514A>C
NM_000551.4:c.*3318A>C MANE Select NP_000542.1:n.*3318A>C
NM_001354723.2:c.*3514A>C NP_001341652.1:n.*3514A>C
NM_198156.3:c.*3318A>C NP_937799.1:n.*3318A>C
Search 100 bp 5'
Search 100 bp 3'