Canonical Allele Identifier: CA1345065477
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs1696445639
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10152743G>C , CM000665.2:g.10152743G>C GRCh38
NC_000003.11:g.10194427G>C , CM000665.1:g.10194427G>C GRCh37
NC_000003.10:g.10169427G>C NCBI36
NG_008212.3:g.16109G>C , LRG_322:g.16109G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000696153.1:c.*2778G>C ENSP00000512444.1:n.*2778G>C
ENST00000256474.3:c.*2778G>C MANE Select ENSP00000256474.3:n.*2778G>C
NM_000551.3:c.*2778G>C , LRG_322t1:c.*2778G>C NP_000542.1:n.*2778G>C
NM_198156.2:c.*2778G>C NP_937799.1:n.*2778G>C
NM_001354723.1:c.*2974G>C NP_001341652.1:n.*2974G>C
NM_000551.4:c.*2778G>C MANE Select NP_000542.1:n.*2778G>C
NM_001354723.2:c.*2974G>C NP_001341652.1:n.*2974G>C
NM_198156.3:c.*2778G>C NP_937799.1:n.*2778G>C
Search 100 bp 5'
Search 100 bp 3'