Canonical Allele Identifier: CA432423326

Gene: VHL

Linked Data

• dbSNP Id: rs878854126
• MyVariant Identifiers: chr3:g.10191514A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149830A>T , CM000665.2:g.10149830A>T	GRCh38
NC_000003.11:g.10191514A>T , CM000665.1:g.10191514A>T	GRCh37
NC_000003.10:g.10166514A>T	NCBI36
NG_008212.3:g.13196A>T , LRG_322:g.13196A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*184A>T	ENSP00000512434.1:n.*184A>T
ENST00000696143.1:c.643A>T	ENSP00000512435.1:n.643A>T
ENST00000696153.1:c.618A>T	ENSP00000512444.1:p.Leu206=
ENST00000256474.3:c.507A>T MANE Select	ENSP00000256474.3:p.Leu169=
ENST00000256474.2:c.507A>T	ENSP00000256474.2:p.Leu169=
ENST00000345392.2:c.384A>T	ENSP00000344757.2:p.Leu128=
ENST00000477538.1:n.643A>T
NM_000551.3:c.507A>T , LRG_322t1:c.507A>T	NP_000542.1:p.Leu169=
NM_198156.2:c.384A>T	NP_937799.1:p.Leu128=
NM_001354723.1:c.*61A>T	NP_001341652.1:n.*61A>T
NM_000551.4:c.507A>T MANE Select	NP_000542.1:p.Leu169=
NM_001354723.2:c.*61A>T	NP_001341652.1:n.*61A>T
NM_198156.3:c.384A>T	NP_937799.1:p.Leu128=