Canonical Allele Identifier: CA70055115

Gene: VHL

Linked Data

• dbSNP Id: rs990870523
• gnomAD v2: 3-10194971-A-C
• gnomAD v3: 3-10153287-A-C
• gnomAD v4: 3-10153287-A-C
• MyVariant Identifiers: chr3:g.10194971A>C (hg19) ; chr3:g.10153287A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10153287A>C , CM000665.2:g.10153287A>C	GRCh38
NC_000003.11:g.10194971A>C , CM000665.1:g.10194971A>C	GRCh37
NC_000003.10:g.10169971A>C	NCBI36
NG_008212.3:g.16653A>C , LRG_322:g.16653A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696153.1:c.*3322A>C	ENSP00000512444.1:n.*3322A>C
ENST00000256474.3:c.*3322A>C MANE Select	ENSP00000256474.3:n.*3322A>C
NM_000551.3:c.*3322A>C , LRG_322t1:c.*3322A>C	NP_000542.1:n.*3322A>C
NM_198156.2:c.*3322A>C	NP_937799.1:n.*3322A>C
NM_001354723.1:c.*3518A>C	NP_001341652.1:n.*3518A>C
NM_000551.4:c.*3322A>C MANE Select	NP_000542.1:n.*3322A>C
NM_001354723.2:c.*3518A>C	NP_001341652.1:n.*3518A>C
NM_198156.3:c.*3322A>C	NP_937799.1:n.*3322A>C