Canonical Allele Identifier: CA357060

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149813C>T , CM000665.2:g.10149813C>T	GRCh38
NC_000003.11:g.10191497C>T , CM000665.1:g.10191497C>T	GRCh37
NC_000003.10:g.10166497C>T	NCBI36
NG_008212.3:g.13179C>T , LRG_322:g.13179C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000551.4:c.490C>T MANE Select	NP_000542.1:p.Gln164Ter
ENST00000256474.3:c.490C>T MANE Select	ENSP00000256474.3:p.Gln164Ter
NM_000551.3:c.490C>T , LRG_322t1:c.490C>T	NP_000542.1:p.Gln164Ter
NM_001354723.1:c.*44C>T	NP_001341652.1:n.*44C>T
NM_001354723.2:c.*44C>T	NP_001341652.1:n.*44C>T
NM_198156.2:c.367C>T	NP_937799.1:p.Gln123Ter
NM_198156.3:c.367C>T	NP_937799.1:p.Gln123Ter
ENST00000256474.2:c.490C>T	ENSP00000256474.2:p.Gln164Ter
ENST00000345392.2:c.367C>T	ENSP00000344757.2:p.Gln123Ter
ENST00000477538.1:n.626C>T
ENST00000696142.1:c.*167C>T	ENSP00000512434.1:n.*167C>T
ENST00000696143.1:c.626C>T	ENSP00000512435.1:n.626C>T
ENST00000696153.1:c.601C>T	ENSP00000512444.1:p.Gln201Ter