Canonical Allele Identifier: CA1345065881

Gene: VHL

Linked Data

• dbSNP Id: rs1379181592
• gnomAD v3: 3-10153319-T-G
• gnomAD v4: 3-10153319-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10153319T>G , CM000665.2:g.10153319T>G	GRCh38
NC_000003.11:g.10195003T>G , CM000665.1:g.10195003T>G	GRCh37
NC_000003.10:g.10170003T>G	NCBI36
NG_008212.3:g.16685T>G , LRG_322:g.16685T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696153.1:c.*3354T>G	ENSP00000512444.1:n.*3354T>G
ENST00000256474.3:c.*3354T>G MANE Select	ENSP00000256474.3:n.*3354T>G
NM_000551.3:c.*3354T>G , LRG_322t1:c.*3354T>G	NP_000542.1:n.*3354T>G
NM_198156.2:c.*3354T>G	NP_937799.1:n.*3354T>G
NM_001354723.1:c.*3550T>G	NP_001341652.1:n.*3550T>G
NM_000551.4:c.*3354T>G MANE Select	NP_000542.1:n.*3354T>G
NM_001354723.2:c.*3550T>G	NP_001341652.1:n.*3550T>G
NM_198156.3:c.*3354T>G	NP_937799.1:n.*3354T>G