Canonical Allele Identifier: CA1044994426

Gene: VHL

Linked Data

• dbSNP Id: rs1696102183
• gnomAD v3: 3-10141639-GC-G
• gnomAD v4: 3-10141639-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141641del , CM000665.2:g.10141641del	GRCh38
NC_000003.11:g.10183325del , CM000665.1:g.10183325del	GRCh37
NC_000003.10:g.10158325del	NCBI36
NG_008212.3:g.5007del , LRG_322:g.5007del

Transcript Alleles

HGVS	Amino-acid change
ENST00000256474.2:c.-207del	ENSP00000256474.2:n.-207del
NM_000551.3:c.-207del , LRG_322t1:c.-207del	NP_000542.1:n.-207del
NM_198156.2:c.-207del	NP_937799.1:n.-207del
NM_001354723.1:c.-207del	NP_001341652.1:n.-207del