Canonical Allele Identifier: CA2701985064

Gene: VHL

Linked Data

• dbSNP Id: rs1696259908

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146500G>C , CM000665.2:g.10146500G>C	GRCh38
NC_000003.11:g.10188184G>C , CM000665.1:g.10188184G>C	GRCh37
NC_000003.10:g.10163184G>C	NCBI36
NG_008212.3:g.9866G>C , LRG_322:g.9866G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*18-14G>C	ENSP00000512434.1:n.*18-14G>C
ENST00000696143.1:c.600-3287G>C	ENSP00000512435.1:n.600-3287G>C
ENST00000696153.1:c.341-14G>C	ENSP00000512444.1:n.341-14G>C
ENST00000256474.3:c.341-14G>C MANE Select	ENSP00000256474.3:n.341-14G>C
ENST00000256474.2:c.341-14G>C	ENSP00000256474.2:n.341-14G>C
ENST00000345392.2:c.341-3287G>C	ENSP00000344757.2:n.341-3287G>C
ENST00000477538.1:n.477-14G>C
NM_000551.3:c.341-14G>C , LRG_322t1:c.341-14G>C	NP_000542.1:n.341-14G>C
NM_198156.2:c.341-3287G>C	NP_937799.1:n.341-3287G>C
XM_011534078.1:c.*18-14G>C	XP_011532380.1:n.*18-14G>C
NM_001354723.1:c.*18-3287G>C	NP_001341652.1:n.*18-3287G>C
NM_000551.4:c.341-14G>C MANE Select	NP_000542.1:n.341-14G>C
NM_001354723.2:c.*18-3287G>C	NP_001341652.1:n.*18-3287G>C
NM_198156.3:c.341-3287G>C	NP_937799.1:n.341-3287G>C