Canonical Allele Identifier: CA351756024

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149785A>C , CM000665.2:g.10149785A>C	GRCh38
NC_000003.11:g.10191469A>C , CM000665.1:g.10191469A>C	GRCh37
NC_000003.10:g.10166469A>C	NCBI36
NG_008212.3:g.13151A>C , LRG_322:g.13151A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000551.4:c.464-2A>C MANE Select	NP_000542.1:n.464-2A>C
ENST00000256474.3:c.464-2A>C MANE Select	ENSP00000256474.3:n.464-2A>C
NM_000551.3:c.464-2A>C , LRG_322t1:c.464-2A>C	NP_000542.1:n.464-2A>C
NM_001354723.1:c.*18-2A>C	NP_001341652.1:n.*18-2A>C
NM_001354723.2:c.*18-2A>C	NP_001341652.1:n.*18-2A>C
NM_198156.2:c.341-2A>C	NP_937799.1:n.341-2A>C
NM_198156.3:c.341-2A>C	NP_937799.1:n.341-2A>C
ENST00000256474.2:c.464-2A>C	ENSP00000256474.2:n.464-2A>C
ENST00000345392.2:c.341-2A>C	ENSP00000344757.2:n.341-2A>C
ENST00000477538.1:n.600-2A>C
ENST00000696142.1:c.*141-2A>C	ENSP00000512434.1:n.*141-2A>C
ENST00000696143.1:c.600-2A>C	ENSP00000512435.1:n.600-2A>C
ENST00000696153.1:c.575-2A>C	ENSP00000512444.1:n.575-2A>C