Canonical Allele Identifier: CA2664399798
Gene: VHL HGNC NCBI

Linked Data

gnomAD v4: 3-10141729-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141729T>C , CM000665.2:g.10141729T>C GRCh38
NC_000003.11:g.10183413T>C , CM000665.1:g.10183413T>C GRCh37
NC_000003.10:g.10158413T>C NCBI36
NG_008212.3:g.5095T>C , LRG_322:g.5095T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.2:c.-119T>C ENSP00000256474.2:n.-119T>C
NM_000551.3:c.-119T>C , LRG_322t1:c.-119T>C NP_000542.1:n.-119T>C
NM_198156.2:c.-119T>C NP_937799.1:n.-119T>C
NM_001354723.1:c.-119T>C NP_001341652.1:n.-119T>C
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