Canonical Allele Identifier: CA351754261

Gene: VHL

Linked Data

• ClinVar Variation Id: 2451974
• ClinVar RCV Id: RCV003187670 ; RCV003420594
• dbSNP Id: rs1057517560
• gnomAD v4: 3-10146612-A-T
• MyVariant Identifiers: chr3:g.10188296A>T (hg19) ; chr3:g.10146612A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146612A>T , CM000665.2:g.10146612A>T	GRCh38
NC_000003.11:g.10188296A>T , CM000665.1:g.10188296A>T	GRCh37
NC_000003.10:g.10163296A>T	NCBI36
NG_008212.3:g.9978A>T , LRG_322:g.9978A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*116A>T	ENSP00000512434.1:n.*116A>T
ENST00000696143.1:c.600-3175A>T	ENSP00000512435.1:n.600-3175A>T
ENST00000696153.1:c.439A>T	ENSP00000512444.1:p.Ile147Phe
ENST00000256474.3:c.439A>T MANE Select	ENSP00000256474.3:p.Ile147Phe
ENST00000256474.2:c.439A>T	ENSP00000256474.2:p.Ile147Phe
ENST00000345392.2:c.341-3175A>T	ENSP00000344757.2:n.341-3175A>T
ENST00000477538.1:n.575A>T
NM_000551.3:c.439A>T , LRG_322t1:c.439A>T	NP_000542.1:p.Ile147Phe
NM_198156.2:c.341-3175A>T	NP_937799.1:n.341-3175A>T
NM_001354723.1:c.*18-3175A>T	NP_001341652.1:n.*18-3175A>T
NM_000551.4:c.439A>T MANE Select	NP_000542.1:p.Ile147Phe
NM_001354723.2:c.*18-3175A>T	NP_001341652.1:n.*18-3175A>T
NM_198156.3:c.341-3175A>T	NP_937799.1:n.341-3175A>T