Canonical Allele Identifier: CA1345064263

Gene: VHL

Linked Data

• dbSNP Id: rs1575920317

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141651A>C , CM000665.2:g.10141651A>C	GRCh38
NC_000003.11:g.10183335A>C , CM000665.1:g.10183335A>C	GRCh37
NC_000003.10:g.10158335A>C	NCBI36
NG_008212.3:g.5017A>C , LRG_322:g.5017A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256474.2:c.-197A>C	ENSP00000256474.2:n.-197A>C
NM_000551.3:c.-197A>C , LRG_322t1:c.-197A>C	NP_000542.1:n.-197A>C
NM_198156.2:c.-197A>C	NP_937799.1:n.-197A>C
NM_001354723.1:c.-197A>C	NP_001341652.1:n.-197A>C