Canonical Allele Identifier: CA2664403070
Gene: VHL HGNC NCBI

Linked Data

gnomAD v4: 3-10152358-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10152358T>G , CM000665.2:g.10152358T>G GRCh38
NC_000003.11:g.10194042T>G , CM000665.1:g.10194042T>G GRCh37
NC_000003.10:g.10169042T>G NCBI36
NG_008212.3:g.15724T>G , LRG_322:g.15724T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000696153.1:c.*2393T>G ENSP00000512444.1:n.*2393T>G
ENST00000256474.3:c.*2393T>G MANE Select ENSP00000256474.3:n.*2393T>G
NM_000551.3:c.*2393T>G , LRG_322t1:c.*2393T>G NP_000542.1:n.*2393T>G
NM_198156.2:c.*2393T>G NP_937799.1:n.*2393T>G
NM_001354723.1:c.*2589T>G NP_001341652.1:n.*2589T>G
NM_000551.4:c.*2393T>G MANE Select NP_000542.1:n.*2393T>G
NM_001354723.2:c.*2589T>G NP_001341652.1:n.*2589T>G
NM_198156.3:c.*2393T>G NP_937799.1:n.*2393T>G
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