Canonical Allele Identifier: CA70052916

Gene: VHL

Linked Data

• dbSNP Id: rs897107843
• gnomAD v4: 3-10150366-G-A
• MyVariant Identifiers: chr3:g.10192050G>A (hg19) ; chr3:g.10150366G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150366G>A , CM000665.2:g.10150366G>A	GRCh38
NC_000003.11:g.10192050G>A , CM000665.1:g.10192050G>A	GRCh37
NC_000003.10:g.10167050G>A	NCBI36
NG_008212.3:g.13732G>A , LRG_322:g.13732G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*720G>A	ENSP00000512434.1:n.*720G>A
ENST00000696143.1:c.1179G>A	ENSP00000512435.1:n.1179G>A
ENST00000696153.1:c.*401G>A	ENSP00000512444.1:n.*401G>A
ENST00000256474.3:c.*401G>A MANE Select	ENSP00000256474.3:n.*401G>A
ENST00000256474.2:c.*401G>A	ENSP00000256474.2:n.*401G>A
ENST00000345392.2:c.*401G>A	ENSP00000344757.2:n.*401G>A
NM_000551.3:c.*401G>A , LRG_322t1:c.*401G>A	NP_000542.1:n.*401G>A
NM_198156.2:c.*401G>A	NP_937799.1:n.*401G>A
NM_001354723.1:c.*597G>A	NP_001341652.1:n.*597G>A
NM_000551.4:c.*401G>A MANE Select	NP_000542.1:n.*401G>A
NM_001354723.2:c.*597G>A	NP_001341652.1:n.*597G>A
NM_198156.3:c.*401G>A	NP_937799.1:n.*401G>A