Canonical Allele Identifier: CA70054617

Gene: VHL

Linked Data

• dbSNP Id: rs1051268292
• gnomAD v2: 3-10194272-G-A
• gnomAD v3: 3-10152588-G-A
• gnomAD v4: 3-10152588-G-A
• MyVariant Identifiers: chr3:g.10194272G>A (hg19) ; chr3:g.10152588G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10152588G>A , CM000665.2:g.10152588G>A	GRCh38
NC_000003.11:g.10194272G>A , CM000665.1:g.10194272G>A	GRCh37
NC_000003.10:g.10169272G>A	NCBI36
NG_008212.3:g.15954G>A , LRG_322:g.15954G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696153.1:c.*2623G>A	ENSP00000512444.1:n.*2623G>A
ENST00000256474.3:c.*2623G>A MANE Select	ENSP00000256474.3:n.*2623G>A
NM_000551.3:c.*2623G>A , LRG_322t1:c.*2623G>A	NP_000542.1:n.*2623G>A
NM_198156.2:c.*2623G>A	NP_937799.1:n.*2623G>A
NM_001354723.1:c.*2819G>A	NP_001341652.1:n.*2819G>A
NM_000551.4:c.*2623G>A MANE Select	NP_000542.1:n.*2623G>A
NM_001354723.2:c.*2819G>A	NP_001341652.1:n.*2819G>A
NM_198156.3:c.*2623G>A	NP_937799.1:n.*2623G>A