Canonical Allele Identifier: CA1345065894
Gene: VHL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10153340A= , CM000665.2:g.10153340A= GRCh38
NC_000003.11:g.10195024A= , CM000665.1:g.10195024A= GRCh37
NC_000003.10:g.10170024A= NCBI36
NG_008212.3:g.16706A= , LRG_322:g.16706A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696153.1:c.*3375A= ENSP00000512444.1:n.*3375A=
ENST00000256474.3:c.*3375A= MANE Select ENSP00000256474.3:n.*3375A=
NM_000551.3:c.*3375A= , LRG_322t1:c.*3375A= NP_000542.1:n.*3375A=
NM_198156.2:c.*3375A= NP_937799.1:n.*3375A=
NM_001354723.1:c.*3571A= NP_001341652.1:n.*3571A=
NM_000551.4:c.*3375A= MANE Select NP_000542.1:n.*3375A=
NM_001354723.2:c.*3571A= NP_001341652.1:n.*3571A=
NM_198156.3:c.*3375A= NP_937799.1:n.*3375A=
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