Canonical Allele Identifier: CA70054473

Gene: VHL

Linked Data

• dbSNP Id: rs1043141649
• MyVariant Identifiers: chr3:g.10194136G>T (hg19) ; chr3:g.10152452G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10152452G>T , CM000665.2:g.10152452G>T	GRCh38
NC_000003.11:g.10194136G>T , CM000665.1:g.10194136G>T	GRCh37
NC_000003.10:g.10169136G>T	NCBI36
NG_008212.3:g.15818G>T , LRG_322:g.15818G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696153.1:c.*2487G>T	ENSP00000512444.1:n.*2487G>T
ENST00000256474.3:c.*2487G>T MANE Select	ENSP00000256474.3:n.*2487G>T
NM_000551.3:c.*2487G>T , LRG_322t1:c.*2487G>T	NP_000542.1:n.*2487G>T
NM_198156.2:c.*2487G>T	NP_937799.1:n.*2487G>T
NM_001354723.1:c.*2683G>T	NP_001341652.1:n.*2683G>T
NM_000551.4:c.*2487G>T MANE Select	NP_000542.1:n.*2487G>T
NM_001354723.2:c.*2683G>T	NP_001341652.1:n.*2683G>T
NM_198156.3:c.*2487G>T	NP_937799.1:n.*2487G>T