Canonical Allele Identifier: CA351756416

Gene: VHL

Linked Data

• ClinVar Variation Id: 2937784
• ClinVar RCV Id: RCV003794414
• dbSNP Id: rs28940301
• gnomAD v4: 3-10149894-C-T
• MyVariant Identifiers: chr3:g.10191578C>T (hg19) ; chr3:g.10149894C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149894C>T , CM000665.2:g.10149894C>T	GRCh38
NC_000003.11:g.10191578C>T , CM000665.1:g.10191578C>T	GRCh37
NC_000003.10:g.10166578C>T	NCBI36
NG_008212.3:g.13260C>T , LRG_322:g.13260C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*248C>T	ENSP00000512434.1:n.*248C>T
ENST00000696143.1:c.707C>T	ENSP00000512435.1:n.707C>T
ENST00000696153.1:c.682C>T	ENSP00000512444.1:p.His228Tyr
ENST00000256474.3:c.571C>T MANE Select	ENSP00000256474.3:p.His191Tyr
ENST00000256474.2:c.571C>T	ENSP00000256474.2:p.His191Tyr
ENST00000345392.2:c.448C>T	ENSP00000344757.2:p.His150Tyr
ENST00000477538.1:n.707C>T
NM_000551.3:c.571C>T , LRG_322t1:c.571C>T	NP_000542.1:p.His191Tyr
NM_198156.2:c.448C>T	NP_937799.1:p.His150Tyr
NM_001354723.1:c.*125C>T	NP_001341652.1:n.*125C>T
NM_000551.4:c.571C>T MANE Select	NP_000542.1:p.His191Tyr
NM_001354723.2:c.*125C>T	NP_001341652.1:n.*125C>T
NM_198156.3:c.448C>T	NP_937799.1:p.His150Tyr