Canonical Allele Identifier: CA541213484
Community Standard Title: NM_000551.4(VHL):c.-66C>G
Gene: VHL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141782C>G , CM000665.2:g.10141782C>G GRCh38
NC_000003.11:g.10183466C>G , CM000665.1:g.10183466C>G GRCh37
NC_000003.10:g.10158466C>G NCBI36
NG_008212.3:g.5148C>G , LRG_322:g.5148C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000551.4:c.-66C>G MANE Select NP_000542.1:n.-66C>G
ENST00000256474.3:c.-66C>G MANE Select ENSP00000256474.3:n.-66C>G
NM_000551.3:c.-66C>G , LRG_322t1:c.-66C>G NP_000542.1:n.-66C>G
NM_001354723.1:c.-66C>G NP_001341652.1:n.-66C>G
NM_001354723.2:c.-66C>G NP_001341652.1:n.-66C>G
NM_198156.2:c.-66C>G NP_937799.1:n.-66C>G
NM_198156.3:c.-66C>G NP_937799.1:n.-66C>G
ENST00000256474.2:c.-66C>G ENSP00000256474.2:n.-66C>G
ENST00000696153.1:c.-66C>G ENSP00000512444.1:n.-66C>G
XM_011534078.1:c.-66C>G XP_011532380.1:n.-66C>G
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