Canonical Allele Identifier: CA896166557

Gene: VHL

Linked Data

• dbSNP Id: rs1348824962
• gnomAD v3: 3-10150363-G-T
• gnomAD v4: 3-10150363-G-T
• MyVariant Identifiers: chr3:g.10192047G>T (hg19) ; chr3:g.10150363G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150363G>T , CM000665.2:g.10150363G>T	GRCh38
NC_000003.11:g.10192047G>T , CM000665.1:g.10192047G>T	GRCh37
NC_000003.10:g.10167047G>T	NCBI36
NG_008212.3:g.13729G>T , LRG_322:g.13729G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*717G>T	ENSP00000512434.1:n.*717G>T
ENST00000696143.1:c.1176G>T	ENSP00000512435.1:n.1176G>T
ENST00000696153.1:c.*398G>T	ENSP00000512444.1:n.*398G>T
ENST00000256474.3:c.*398G>T MANE Select	ENSP00000256474.3:n.*398G>T
ENST00000256474.2:c.*398G>T	ENSP00000256474.2:n.*398G>T
ENST00000345392.2:c.*398G>T	ENSP00000344757.2:n.*398G>T
NM_000551.3:c.*398G>T , LRG_322t1:c.*398G>T	NP_000542.1:n.*398G>T
NM_198156.2:c.*398G>T	NP_937799.1:n.*398G>T
NM_001354723.1:c.*594G>T	NP_001341652.1:n.*594G>T
NM_000551.4:c.*398G>T MANE Select	NP_000542.1:n.*398G>T
NM_001354723.2:c.*594G>T	NP_001341652.1:n.*594G>T
NM_198156.3:c.*398G>T	NP_937799.1:n.*398G>T