Canonical Allele Identifier: CA432423088

Gene: VHL

Linked Data

• dbSNP Id: rs1559429613
• MyVariant Identifiers: chr3:g.10191479C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149795C>T , CM000665.2:g.10149795C>T	GRCh38
NC_000003.11:g.10191479C>T , CM000665.1:g.10191479C>T	GRCh37
NC_000003.10:g.10166479C>T	NCBI36
NG_008212.3:g.13161C>T , LRG_322:g.13161C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*149C>T	ENSP00000512434.1:n.*149C>T
ENST00000696143.1:c.608C>T	ENSP00000512435.1:n.608C>T
ENST00000696153.1:c.583C>T	ENSP00000512444.1:p.Leu195=
ENST00000256474.3:c.472C>T MANE Select	ENSP00000256474.3:p.Leu158=
ENST00000256474.2:c.472C>T	ENSP00000256474.2:p.Leu158=
ENST00000345392.2:c.349C>T	ENSP00000344757.2:p.Leu117=
ENST00000477538.1:n.608C>T
NM_000551.3:c.472C>T , LRG_322t1:c.472C>T	NP_000542.1:p.Leu158=
NM_198156.2:c.349C>T	NP_937799.1:p.Leu117=
NM_001354723.1:c.*26C>T	NP_001341652.1:n.*26C>T
NM_000551.4:c.472C>T MANE Select	NP_000542.1:p.Leu158=
NM_001354723.2:c.*26C>T	NP_001341652.1:n.*26C>T
NM_198156.3:c.349C>T	NP_937799.1:p.Leu117=