Canonical Allele Identifier: CA1139655734

Gene: VHL

Linked Data

• ClinVar Variation Id: 957361
• ClinVar RCV Id: RCV001230325
• dbSNP Id: rs1696159189

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142814A>C , CM000665.2:g.10142814A>C	GRCh38
NC_000003.11:g.10184498A>C , CM000665.1:g.10184498A>C	GRCh37
NC_000003.10:g.10159498A>C	NCBI36
NG_008212.3:g.6180A>C , LRG_322:g.6180A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.392A>C	ENSP00000512434.1:p.Asn131Thr
ENST00000696143.1:c.392A>C	ENSP00000512435.1:p.Asn131Thr
ENST00000696153.1:c.340+627A>C	ENSP00000512444.1:n.340+627A>C
ENST00000256474.3:c.340+627A>C MANE Select	ENSP00000256474.3:n.340+627A>C
ENST00000256474.2:c.340+627A>C	ENSP00000256474.2:n.340+627A>C
ENST00000345392.2:c.340+627A>C	ENSP00000344757.2:n.340+627A>C
ENST00000477538.1:n.269A>C
NM_000551.3:c.340+627A>C , LRG_322t1:c.340+627A>C	NP_000542.1:n.340+627A>C
NM_198156.2:c.340+627A>C	NP_937799.1:n.340+627A>C
XM_011534078.1:c.392A>C	XP_011532380.1:p.Asn131Thr
NM_001354723.1:c.392A>C	NP_001341652.1:p.Asn131Thr
NM_000551.4:c.340+627A>C MANE Select	NP_000542.1:n.340+627A>C
NM_001354723.2:c.392A>C	NP_001341652.1:p.Asn131Thr
NM_198156.3:c.340+627A>C	NP_937799.1:n.340+627A>C