Canonical Allele Identifier: CA351756330
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs2125130664

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149870T>C , CM000665.2:g.10149870T>C GRCh38
NC_000003.11:g.10191554T>C , CM000665.1:g.10191554T>C GRCh37
NC_000003.10:g.10166554T>C NCBI36
NG_008212.3:g.13236T>C , LRG_322:g.13236T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*224T>C ENSP00000512434.1:n.*224T>C
ENST00000696143.1:c.683T>C ENSP00000512435.1:n.683T>C
ENST00000696153.1:c.658T>C ENSP00000512444.1:p.Ser220Pro
ENST00000256474.3:c.547T>C MANE Select ENSP00000256474.3:p.Ser183Pro
ENST00000256474.2:c.547T>C ENSP00000256474.2:p.Ser183Pro
ENST00000345392.2:c.424T>C ENSP00000344757.2:p.Ser142Pro
ENST00000477538.1:n.683T>C
NM_000551.3:c.547T>C , LRG_322t1:c.547T>C NP_000542.1:p.Ser183Pro
NM_198156.2:c.424T>C NP_937799.1:p.Ser142Pro
NM_001354723.1:c.*101T>C NP_001341652.1:n.*101T>C
NM_000551.4:c.547T>C MANE Select NP_000542.1:p.Ser183Pro
NM_001354723.2:c.*101T>C NP_001341652.1:n.*101T>C
NM_198156.3:c.424T>C NP_937799.1:p.Ser142Pro