Canonical Allele Identifier: CA351756723

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149965A>G , CM000665.2:g.10149965A>G	GRCh38
NC_000003.11:g.10191649A>G , CM000665.1:g.10191649A>G	GRCh37
NC_000003.10:g.10166649A>G	NCBI36
NG_008212.3:g.13331A>G , LRG_322:g.13331A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000551.4:c.642A>G MANE Select	NP_000542.1:p.Ter214Trp
ENST00000256474.3:c.642A>G MANE Select	ENSP00000256474.3:p.Ter214Trp
NM_000551.3:c.642A>G , LRG_322t1:c.642A>G	NP_000542.1:p.Ter214Trp
NM_001354723.1:c.*196A>G	NP_001341652.1:n.*196A>G
NM_001354723.2:c.*196A>G	NP_001341652.1:n.*196A>G
NM_198156.2:c.519A>G	NP_937799.1:p.Ter173Trp
NM_198156.3:c.519A>G	NP_937799.1:p.Ter173Trp
ENST00000256474.2:c.642A>G	ENSP00000256474.2:p.Ter214Trp
ENST00000345392.2:c.519A>G	ENSP00000344757.2:p.Ter173Trp
ENST00000477538.1:n.778A>G
ENST00000696142.1:c.*319A>G	ENSP00000512434.1:n.*319A>G
ENST00000696143.1:c.778A>G	ENSP00000512435.1:n.778A>G
ENST00000696153.1:c.753A>G	ENSP00000512444.1:p.Ter251Trp