Canonical Allele Identifier: CA1045001945
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs1696466564
gnomAD v3: 3-10153384-A-G
gnomAD v4: 3-10153384-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10153384A>G , CM000665.2:g.10153384A>G GRCh38
NC_000003.11:g.10195068A>G , CM000665.1:g.10195068A>G GRCh37
NC_000003.10:g.10170068A>G NCBI36
NG_008212.3:g.16750A>G , LRG_322:g.16750A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000696153.1:c.*3419A>G ENSP00000512444.1:n.*3419A>G
ENST00000256474.3:c.*3419A>G MANE Select ENSP00000256474.3:n.*3419A>G
NM_000551.3:c.*3419A>G , LRG_322t1:c.*3419A>G NP_000542.1:n.*3419A>G
NM_198156.2:c.*3419A>G NP_937799.1:n.*3419A>G
NM_001354723.1:c.*3615A>G NP_001341652.1:n.*3615A>G
NM_000551.4:c.*3419A>G MANE Select NP_000542.1:n.*3419A>G
NM_001354723.2:c.*3615A>G NP_001341652.1:n.*3615A>G
NM_198156.3:c.*3419A>G NP_937799.1:n.*3419A>G
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