Canonical Allele Identifier: CA1045000342

Gene: VHL

Linked Data

• dbSNP Id: rs1696420889
• gnomAD v3: 3-10151930-A-T
• gnomAD v4: 3-10151930-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10151930A>T , CM000665.2:g.10151930A>T	GRCh38
NC_000003.11:g.10193614A>T , CM000665.1:g.10193614A>T	GRCh37
NC_000003.10:g.10168614A>T	NCBI36
NG_008212.3:g.15296A>T , LRG_322:g.15296A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696143.1:c.2743A>T	ENSP00000512435.1:n.2743A>T
ENST00000696153.1:c.*1965A>T	ENSP00000512444.1:n.*1965A>T
ENST00000256474.3:c.*1965A>T MANE Select	ENSP00000256474.3:n.*1965A>T
ENST00000256474.2:c.*1965A>T	ENSP00000256474.2:n.*1965A>T
ENST00000345392.2:c.*1965A>T	ENSP00000344757.2:n.*1965A>T
NM_000551.3:c.*1965A>T , LRG_322t1:c.*1965A>T	NP_000542.1:n.*1965A>T
NM_198156.2:c.*1965A>T	NP_937799.1:n.*1965A>T
NM_001354723.1:c.*2161A>T	NP_001341652.1:n.*2161A>T
NM_000551.4:c.*1965A>T MANE Select	NP_000542.1:n.*1965A>T
NM_001354723.2:c.*2161A>T	NP_001341652.1:n.*2161A>T
NM_198156.3:c.*1965A>T	NP_937799.1:n.*1965A>T