Canonical Allele Identifier: CA1345063476
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs1696377714
gnomAD v4: 3-10150274-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10150274T>C , CM000665.2:g.10150274T>C GRCh38
NC_000003.11:g.10191958T>C , CM000665.1:g.10191958T>C GRCh37
NC_000003.10:g.10166958T>C NCBI36
NG_008212.3:g.13640T>C , LRG_322:g.13640T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*628T>C ENSP00000512434.1:n.*628T>C
ENST00000696143.1:c.1087T>C ENSP00000512435.1:n.1087T>C
ENST00000696153.1:c.*309T>C ENSP00000512444.1:n.*309T>C
ENST00000256474.3:c.*309T>C MANE Select ENSP00000256474.3:n.*309T>C
ENST00000256474.2:c.*309T>C ENSP00000256474.2:n.*309T>C
ENST00000345392.2:c.*309T>C ENSP00000344757.2:n.*309T>C
NM_000551.3:c.*309T>C , LRG_322t1:c.*309T>C NP_000542.1:n.*309T>C
NM_198156.2:c.*309T>C NP_937799.1:n.*309T>C
NM_001354723.1:c.*505T>C NP_001341652.1:n.*505T>C
NM_000551.4:c.*309T>C MANE Select NP_000542.1:n.*309T>C
NM_001354723.2:c.*505T>C NP_001341652.1:n.*505T>C
NM_198156.3:c.*309T>C NP_937799.1:n.*309T>C