Canonical Allele Identifier: CA1345063476
Gene: VHL HGNC NCBI

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
ENST00000256474.3:c.*309T>C MANE Select ENSP00000256474.3:p.=
ENST00000256474.2:c.*309T>C ENSP00000256474.2:p.=
ENST00000345392.2:c.*309T>C ENSP00000344757.2:p.=
NM_000551.3:c.*309T>C , LRG_322t1:c.*309T>C NP_000542.1:p.=
NM_198156.2:c.*309T>C NP_937799.1:p.=
NM_001354723.1:c.*505T>C NP_001341652.1:p.=
NM_000551.4:c.*309T>C MANE Select NP_000542.1:p.=
NM_001354723.2:c.*505T>C NP_001341652.1:p.=
NM_198156.3:c.*309T>C NP_937799.1:p.=