Canonical Allele Identifier: CA540877715
Gene: VHL HGNC NCBI

Linked Data

gnomAD v2: 3-10194173-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10152489T>G , CM000665.2:g.10152489T>G GRCh38
NC_000003.11:g.10194173T>G , CM000665.1:g.10194173T>G GRCh37
NC_000003.10:g.10169173T>G NCBI36
NG_008212.3:g.15855T>G , LRG_322:g.15855T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696153.1:c.*2524T>G ENSP00000512444.1:n.*2524T>G
ENST00000256474.3:c.*2524T>G MANE Select ENSP00000256474.3:n.*2524T>G
NM_000551.3:c.*2524T>G , LRG_322t1:c.*2524T>G NP_000542.1:n.*2524T>G
NM_198156.2:c.*2524T>G NP_937799.1:n.*2524T>G
NM_001354723.1:c.*2720T>G NP_001341652.1:n.*2720T>G
NM_000551.4:c.*2524T>G MANE Select NP_000542.1:n.*2524T>G
NM_001354723.2:c.*2720T>G NP_001341652.1:n.*2720T>G
NM_198156.3:c.*2524T>G NP_937799.1:n.*2524T>G