Canonical Allele Identifier: CA540876899
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs1332418555
gnomAD v2: 3-10190189-G-C
gnomAD v3: 3-10148505-G-C
gnomAD v4: 3-10148505-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10148505G>C , CM000665.2:g.10148505G>C GRCh38
NC_000003.11:g.10190189G>C , CM000665.1:g.10190189G>C GRCh37
NC_000003.10:g.10165189G>C NCBI36
NG_008212.3:g.11871G>C , LRG_322:g.11871G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*141-1282G>C ENSP00000512434.1:n.*141-1282G>C
ENST00000696143.1:c.600-1282G>C ENSP00000512435.1:n.600-1282G>C
ENST00000696153.1:c.464-199G>C ENSP00000512444.1:n.464-199G>C
ENST00000256474.3:c.464-1282G>C MANE Select ENSP00000256474.3:n.464-1282G>C
ENST00000256474.2:c.464-1282G>C ENSP00000256474.2:n.464-1282G>C
ENST00000345392.2:c.341-1282G>C ENSP00000344757.2:n.341-1282G>C
ENST00000477538.1:n.600-1282G>C
NM_000551.3:c.464-1282G>C , LRG_322t1:c.464-1282G>C NP_000542.1:n.464-1282G>C
NM_198156.2:c.341-1282G>C NP_937799.1:n.341-1282G>C
NM_001354723.1:c.*18-1282G>C NP_001341652.1:n.*18-1282G>C
NM_000551.4:c.464-1282G>C MANE Select NP_000542.1:n.464-1282G>C
NM_001354723.2:c.*18-1282G>C NP_001341652.1:n.*18-1282G>C
NM_198156.3:c.341-1282G>C NP_937799.1:n.341-1282G>C