Canonical Allele Identifier: CA351756701

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149956G>A , CM000665.2:g.10149956G>A	GRCh38
NC_000003.11:g.10191640G>A , CM000665.1:g.10191640G>A	GRCh37
NC_000003.10:g.10166640G>A	NCBI36
NG_008212.3:g.13322G>A , LRG_322:g.13322G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000551.4:c.633G>A MANE Select	NP_000542.1:p.Met211Ile
ENST00000256474.3:c.633G>A MANE Select	ENSP00000256474.3:p.Met211Ile
NM_000551.3:c.633G>A , LRG_322t1:c.633G>A	NP_000542.1:p.Met211Ile
NM_001354723.1:c.*187G>A	NP_001341652.1:n.*187G>A
NM_001354723.2:c.*187G>A	NP_001341652.1:n.*187G>A
NM_198156.2:c.510G>A	NP_937799.1:p.Met170Ile
NM_198156.3:c.510G>A	NP_937799.1:p.Met170Ile
ENST00000256474.2:c.633G>A	ENSP00000256474.2:p.Met211Ile
ENST00000345392.2:c.510G>A	ENSP00000344757.2:p.Met170Ile
ENST00000477538.1:n.769G>A
ENST00000696142.1:c.*310G>A	ENSP00000512434.1:n.*310G>A
ENST00000696143.1:c.769G>A	ENSP00000512435.1:n.769G>A
ENST00000696153.1:c.744G>A	ENSP00000512444.1:p.Met248Ile