Canonical Allele Identifier: CA2581856265

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150259G>C , CM000665.2:g.10150259G>C	GRCh38
NC_000003.11:g.10191943G>C , CM000665.1:g.10191943G>C	GRCh37
NC_000003.10:g.10166943G>C	NCBI36
NG_008212.3:g.13625G>C , LRG_322:g.13625G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*613G>C	ENSP00000512434.1:n.*613G>C
ENST00000696143.1:c.1072G>C	ENSP00000512435.1:n.1072G>C
ENST00000696153.1:c.*294G>C	ENSP00000512444.1:n.*294G>C
ENST00000256474.3:c.*294G>C MANE Select	ENSP00000256474.3:n.*294G>C
ENST00000256474.2:c.*294G>C	ENSP00000256474.2:n.*294G>C
ENST00000345392.2:c.*294G>C	ENSP00000344757.2:n.*294G>C
NM_000551.3:c.*294G>C , LRG_322t1:c.*294G>C	NP_000542.1:n.*294G>C
NM_198156.2:c.*294G>C	NP_937799.1:n.*294G>C
NM_001354723.1:c.*490G>C	NP_001341652.1:n.*490G>C
NM_000551.4:c.*294G>C MANE Select	NP_000542.1:n.*294G>C
NM_001354723.2:c.*490G>C	NP_001341652.1:n.*490G>C
NM_198156.3:c.*294G>C	NP_937799.1:n.*294G>C