Canonical Allele Identifier: CA10614396

Gene: VHL

Linked Data

• ClinVar Variation Id: 342409
• ClinVar RCV Id: RCV000313063
• dbSNP Id: rs886057706
• MyVariant Identifiers: chr3:g.10191998G>T (hg19) ; chr3:g.10150314G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150314G>T , CM000665.2:g.10150314G>T	GRCh38
NC_000003.11:g.10191998G>T , CM000665.1:g.10191998G>T	GRCh37
NC_000003.10:g.10166998G>T	NCBI36
NG_008212.3:g.13680G>T , LRG_322:g.13680G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*668G>T	ENSP00000512434.1:n.*668G>T
ENST00000696143.1:c.1127G>T	ENSP00000512435.1:n.1127G>T
ENST00000696153.1:c.*349G>T	ENSP00000512444.1:n.*349G>T
ENST00000256474.3:c.*349G>T MANE Select	ENSP00000256474.3:n.*349G>T
ENST00000256474.2:c.*349G>T	ENSP00000256474.2:n.*349G>T
ENST00000345392.2:c.*349G>T	ENSP00000344757.2:n.*349G>T
NM_000551.3:c.*349G>T , LRG_322t1:c.*349G>T	NP_000542.1:n.*349G>T
NM_198156.2:c.*349G>T	NP_937799.1:n.*349G>T
NM_001354723.1:c.*545G>T	NP_001341652.1:n.*545G>T
NM_000551.4:c.*349G>T MANE Select	NP_000542.1:n.*349G>T
NM_001354723.2:c.*545G>T	NP_001341652.1:n.*545G>T
NM_198156.3:c.*349G>T	NP_937799.1:n.*349G>T