Canonical Allele Identifier: CA351756661

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149937G>T , CM000665.2:g.10149937G>T	GRCh38
NC_000003.11:g.10191621G>T , CM000665.1:g.10191621G>T	GRCh37
NC_000003.10:g.10166621G>T	NCBI36
NG_008212.3:g.13303G>T , LRG_322:g.13303G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000551.4:c.614G>T MANE Select	NP_000542.1:p.Arg205Leu
ENST00000256474.3:c.614G>T MANE Select	ENSP00000256474.3:p.Arg205Leu
NM_000551.3:c.614G>T , LRG_322t1:c.614G>T	NP_000542.1:p.Arg205Leu
NM_001354723.1:c.*168G>T	NP_001341652.1:n.*168G>T
NM_001354723.2:c.*168G>T	NP_001341652.1:n.*168G>T
NM_198156.2:c.491G>T	NP_937799.1:p.Arg164Leu
NM_198156.3:c.491G>T	NP_937799.1:p.Arg164Leu
ENST00000256474.2:c.614G>T	ENSP00000256474.2:p.Arg205Leu
ENST00000345392.2:c.491G>T	ENSP00000344757.2:p.Arg164Leu
ENST00000477538.1:n.750G>T
ENST00000696142.1:c.*291G>T	ENSP00000512434.1:n.*291G>T
ENST00000696143.1:c.750G>T	ENSP00000512435.1:n.750G>T
ENST00000696153.1:c.725G>T	ENSP00000512444.1:p.Arg242Leu