Canonical Allele Identifier: CA2577505251

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146688A>C , CM000665.2:g.10146688A>C	GRCh38
NC_000003.11:g.10188372A>C , CM000665.1:g.10188372A>C	GRCh37
NC_000003.10:g.10163372A>C	NCBI36
NG_008212.3:g.10054A>C , LRG_322:g.10054A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*140+52A>C	ENSP00000512434.1:n.*140+52A>C
ENST00000696143.1:c.600-3099A>C	ENSP00000512435.1:n.600-3099A>C
ENST00000696153.1:c.463+52A>C	ENSP00000512444.1:n.463+52A>C
ENST00000256474.3:c.463+52A>C MANE Select	ENSP00000256474.3:n.463+52A>C
ENST00000256474.2:c.463+52A>C	ENSP00000256474.2:n.463+52A>C
ENST00000345392.2:c.341-3099A>C	ENSP00000344757.2:n.341-3099A>C
ENST00000477538.1:n.599+52A>C
NM_000551.3:c.463+52A>C , LRG_322t1:c.463+52A>C	NP_000542.1:n.463+52A>C
NM_198156.2:c.341-3099A>C	NP_937799.1:n.341-3099A>C
NM_001354723.1:c.*18-3099A>C	NP_001341652.1:n.*18-3099A>C
NM_000551.4:c.463+52A>C MANE Select	NP_000542.1:n.463+52A>C
NM_001354723.2:c.*18-3099A>C	NP_001341652.1:n.*18-3099A>C
NM_198156.3:c.341-3099A>C	NP_937799.1:n.341-3099A>C