Canonical Allele Identifier: CA039923
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 560734
ClinVar RCV Id: RCV000679008
dbSNP Id: rs760414295
gnomAD v2: 3-10183509-G-C
gnomAD v3: 3-10141825-G-C
gnomAD v4: 3-10141825-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141825G>C , CM000665.2:g.10141825G>C GRCh38
NC_000003.11:g.10183509G>C , CM000665.1:g.10183509G>C GRCh37
NC_000003.10:g.10158509G>C NCBI36
NG_008212.3:g.5191G>C , LRG_322:g.5191G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.-23G>C ENSP00000512434.1:n.-23G>C
ENST00000696153.1:c.-23G>C ENSP00000512444.1:n.-23G>C
ENST00000256474.3:c.-23G>C MANE Select ENSP00000256474.3:n.-23G>C
ENST00000256474.2:c.-23G>C ENSP00000256474.2:n.-23G>C
ENST00000345392.2:c.-23G>C ENSP00000344757.2:n.-23G>C
NM_000551.3:c.-23G>C , LRG_322t1:c.-23G>C NP_000542.1:n.-23G>C
NM_198156.2:c.-23G>C NP_937799.1:n.-23G>C
XM_011534078.1:c.-23G>C XP_011532380.1:n.-23G>C
NM_001354723.1:c.-23G>C NP_001341652.1:n.-23G>C
NM_000551.4:c.-23G>C MANE Select NP_000542.1:n.-23G>C
NM_001354723.2:c.-23G>C NP_001341652.1:n.-23G>C
NM_198156.3:c.-23G>C NP_937799.1:n.-23G>C