Canonical Allele Identifier: CA541213480
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs1264009342
gnomAD v2: 3-10183432-G-A
gnomAD v3: 3-10141748-G-A
gnomAD v4: 3-10141748-G-A
MyVariant Identifiers: chr3:g.10183432G>A (hg19) chr3:g.10141748G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141748G>A , CM000665.2:g.10141748G>A GRCh38
NC_000003.11:g.10183432G>A , CM000665.1:g.10183432G>A GRCh37
NC_000003.10:g.10158432G>A NCBI36
NG_008212.3:g.5114G>A , LRG_322:g.5114G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.2:c.-100G>A ENSP00000256474.2:n.-100G>A
NM_000551.3:c.-100G>A , LRG_322t1:c.-100G>A NP_000542.1:n.-100G>A
NM_198156.2:c.-100G>A NP_937799.1:n.-100G>A
NM_001354723.1:c.-100G>A NP_001341652.1:n.-100G>A
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