Canonical Allele Identifier: CA1045000971
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs1696435102
gnomAD v3: 3-10152479-G-C
gnomAD v4: 3-10152479-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10152479G>C , CM000665.2:g.10152479G>C GRCh38
NC_000003.11:g.10194163G>C , CM000665.1:g.10194163G>C GRCh37
NC_000003.10:g.10169163G>C NCBI36
NG_008212.3:g.15845G>C , LRG_322:g.15845G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000696153.1:c.*2514G>C ENSP00000512444.1:n.*2514G>C
ENST00000256474.3:c.*2514G>C MANE Select ENSP00000256474.3:n.*2514G>C
NM_000551.3:c.*2514G>C , LRG_322t1:c.*2514G>C NP_000542.1:n.*2514G>C
NM_198156.2:c.*2514G>C NP_937799.1:n.*2514G>C
NM_001354723.1:c.*2710G>C NP_001341652.1:n.*2710G>C
NM_000551.4:c.*2514G>C MANE Select NP_000542.1:n.*2514G>C
NM_001354723.2:c.*2710G>C NP_001341652.1:n.*2710G>C
NM_198156.3:c.*2514G>C NP_937799.1:n.*2514G>C
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