Canonical Allele Identifier: CA020534

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149954A>C , CM000665.2:g.10149954A>C	GRCh38
NC_000003.11:g.10191638A>C , CM000665.1:g.10191638A>C	GRCh37
NC_000003.10:g.10166638A>C	NCBI36
NG_008212.3:g.13320A>C , LRG_322:g.13320A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*308A>C	ENSP00000512434.1:n.*308A>C
ENST00000696143.1:c.767A>C	ENSP00000512435.1:n.767A>C
ENST00000696153.1:c.742A>C	ENSP00000512444.1:p.Met248Leu
ENST00000256474.3:c.631A>C MANE Select	ENSP00000256474.3:p.Met211Leu
ENST00000256474.2:c.631A>C	ENSP00000256474.2:p.Met211Leu
ENST00000345392.2:c.508A>C	ENSP00000344757.2:p.Met170Leu
ENST00000477538.1:n.767A>C
NM_000551.3:c.631A>C , LRG_322t1:c.631A>C	NP_000542.1:p.Met211Leu
NM_198156.2:c.508A>C	NP_937799.1:p.Met170Leu
NM_001354723.1:c.*185A>C	NP_001341652.1:n.*185A>C
NM_000551.4:c.631A>C MANE Select	NP_000542.1:p.Met211Leu
NM_001354723.2:c.*185A>C	NP_001341652.1:n.*185A>C
NM_198156.3:c.508A>C	NP_937799.1:p.Met170Leu