Canonical Allele Identifier: CA432421900

Gene: VHL

Linked Data

• ClinVar Variation Id: 2126222
• ClinVar RCV Id: RCV003051549
• dbSNP Id: rs775038762
• MyVariant Identifiers: chr3:g.10188301T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146617T>C , CM000665.2:g.10146617T>C	GRCh38
NC_000003.11:g.10188301T>C , CM000665.1:g.10188301T>C	GRCh37
NC_000003.10:g.10163301T>C	NCBI36
NG_008212.3:g.9983T>C , LRG_322:g.9983T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*121T>C	ENSP00000512434.1:n.*121T>C
ENST00000696143.1:c.600-3170T>C	ENSP00000512435.1:n.600-3170T>C
ENST00000696153.1:c.444T>C	ENSP00000512444.1:p.Phe148=
ENST00000256474.3:c.444T>C MANE Select	ENSP00000256474.3:p.Phe148=
ENST00000256474.2:c.444T>C	ENSP00000256474.2:p.Phe148=
ENST00000345392.2:c.341-3170T>C	ENSP00000344757.2:n.341-3170T>C
ENST00000477538.1:n.580T>C
NM_000551.3:c.444T>C , LRG_322t1:c.444T>C	NP_000542.1:p.Phe148=
NM_198156.2:c.341-3170T>C	NP_937799.1:n.341-3170T>C
NM_001354723.1:c.*18-3170T>C	NP_001341652.1:n.*18-3170T>C
NM_000551.4:c.444T>C MANE Select	NP_000542.1:p.Phe148=
NM_001354723.2:c.*18-3170T>C	NP_001341652.1:n.*18-3170T>C
NM_198156.3:c.341-3170T>C	NP_937799.1:n.341-3170T>C