Canonical Allele Identifier: CA2592313250

Gene: VHL

Linked Data

• dbSNP Id: rs2125132346
• gnomAD v3: 3-10152360-C-T
• gnomAD v4: 3-10152360-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10152360C>T , CM000665.2:g.10152360C>T	GRCh38
NC_000003.11:g.10194044C>T , CM000665.1:g.10194044C>T	GRCh37
NC_000003.10:g.10169044C>T	NCBI36
NG_008212.3:g.15726C>T , LRG_322:g.15726C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696153.1:c.*2395C>T	ENSP00000512444.1:n.*2395C>T
ENST00000256474.3:c.*2395C>T MANE Select	ENSP00000256474.3:n.*2395C>T
NM_000551.3:c.*2395C>T , LRG_322t1:c.*2395C>T	NP_000542.1:n.*2395C>T
NM_198156.2:c.*2395C>T	NP_937799.1:n.*2395C>T
NM_001354723.1:c.*2591C>T	NP_001341652.1:n.*2591C>T
NM_000551.4:c.*2395C>T MANE Select	NP_000542.1:n.*2395C>T
NM_001354723.2:c.*2591C>T	NP_001341652.1:n.*2591C>T
NM_198156.3:c.*2395C>T	NP_937799.1:n.*2395C>T