Canonical Allele Identifier: CA2580068369

Gene: VHL

Linked Data

• ClinVar Variation Id: 1697921
• ClinVar RCV Id: RCV002269205
• dbSNP Id: rs2125128116

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146466G>T , CM000665.2:g.10146466G>T	GRCh38
NC_000003.11:g.10188150G>T , CM000665.1:g.10188150G>T	GRCh37
NC_000003.10:g.10163150G>T	NCBI36
NG_008212.3:g.9832G>T , LRG_322:g.9832G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*18-48G>T	ENSP00000512434.1:n.*18-48G>T
ENST00000696143.1:c.600-3321G>T	ENSP00000512435.1:n.600-3321G>T
ENST00000696153.1:c.341-48G>T	ENSP00000512444.1:n.341-48G>T
ENST00000256474.3:c.341-48G>T MANE Select	ENSP00000256474.3:n.341-48G>T
ENST00000256474.2:c.341-48G>T	ENSP00000256474.2:n.341-48G>T
ENST00000345392.2:c.341-3321G>T	ENSP00000344757.2:n.341-3321G>T
ENST00000477538.1:n.477-48G>T
NM_000551.3:c.341-48G>T , LRG_322t1:c.341-48G>T	NP_000542.1:n.341-48G>T
NM_198156.2:c.341-3321G>T	NP_937799.1:n.341-3321G>T
XM_011534078.1:c.*18-48G>T	XP_011532380.1:n.*18-48G>T
NM_001354723.1:c.*18-3321G>T	NP_001341652.1:n.*18-3321G>T
NM_000551.4:c.341-48G>T MANE Select	NP_000542.1:n.341-48G>T
NM_001354723.2:c.*18-3321G>T	NP_001341652.1:n.*18-3321G>T
NM_198156.3:c.341-3321G>T	NP_937799.1:n.341-3321G>T