Canonical Allele Identifier: CA351756469

Gene: VHL

Linked Data

• ClinVar Variation Id: 2566468
• ClinVar RCV Id: RCV003293646
• dbSNP Id: rs1427691780
• MyVariant Identifiers: chr3:g.10191587G>A (hg19) ; chr3:g.10149903G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149903G>A , CM000665.2:g.10149903G>A	GRCh38
NC_000003.11:g.10191587G>A , CM000665.1:g.10191587G>A	GRCh37
NC_000003.10:g.10166587G>A	NCBI36
NG_008212.3:g.13269G>A , LRG_322:g.13269G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*257G>A	ENSP00000512434.1:n.*257G>A
ENST00000696143.1:c.716G>A	ENSP00000512435.1:n.716G>A
ENST00000696153.1:c.691G>A	ENSP00000512444.1:p.Val231Met
ENST00000256474.3:c.580G>A MANE Select	ENSP00000256474.3:p.Val194Met
ENST00000256474.2:c.580G>A	ENSP00000256474.2:p.Val194Met
ENST00000345392.2:c.457G>A	ENSP00000344757.2:p.Val153Met
ENST00000477538.1:n.716G>A
NM_000551.3:c.580G>A , LRG_322t1:c.580G>A	NP_000542.1:p.Val194Met
NM_198156.2:c.457G>A	NP_937799.1:p.Val153Met
NM_001354723.1:c.*134G>A	NP_001341652.1:n.*134G>A
NM_000551.4:c.580G>A MANE Select	NP_000542.1:p.Val194Met
NM_001354723.2:c.*134G>A	NP_001341652.1:n.*134G>A
NM_198156.3:c.457G>A	NP_937799.1:p.Val153Met