Canonical Allele Identifier: CA1345063397

Gene: VHL

Linked Data

• dbSNP Id: rs1696375615

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150214T>G , CM000665.2:g.10150214T>G	GRCh38
NC_000003.11:g.10191898T>G , CM000665.1:g.10191898T>G	GRCh37
NC_000003.10:g.10166898T>G	NCBI36
NG_008212.3:g.13580T>G , LRG_322:g.13580T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*568T>G	ENSP00000512434.1:n.*568T>G
ENST00000696143.1:c.1027T>G	ENSP00000512435.1:n.1027T>G
ENST00000696153.1:c.*249T>G	ENSP00000512444.1:n.*249T>G
ENST00000256474.3:c.*249T>G MANE Select	ENSP00000256474.3:n.*249T>G
ENST00000256474.2:c.*249T>G	ENSP00000256474.2:n.*249T>G
ENST00000345392.2:c.*249T>G	ENSP00000344757.2:n.*249T>G
NM_000551.3:c.*249T>G , LRG_322t1:c.*249T>G	NP_000542.1:n.*249T>G
NM_198156.2:c.*249T>G	NP_937799.1:n.*249T>G
NM_001354723.1:c.*445T>G	NP_001341652.1:n.*445T>G
NM_000551.4:c.*249T>G MANE Select	NP_000542.1:n.*249T>G
NM_001354723.2:c.*445T>G	NP_001341652.1:n.*445T>G
NM_198156.3:c.*249T>G	NP_937799.1:n.*249T>G