Canonical Allele Identifier: CA041194

Gene: VHL

Linked Data

• ClinVar Variation Id: 456589
• ClinVar RCV Id: RCV000544850 ; RCV001143973 ; RCV001576452
• dbSNP Id: rs552930903
• ExAC: 3:10191461 G / A
• gnomAD v2: 3-10191461-G-A
• gnomAD v3: 3-10149777-G-A
• gnomAD v4: 3-10149777-G-A
• MyVariant Identifiers: chr3:g.10191461G>A (hg19) ; chr3:g.10149777G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149777G>A , CM000665.2:g.10149777G>A	GRCh38
NC_000003.11:g.10191461G>A , CM000665.1:g.10191461G>A	GRCh37
NC_000003.10:g.10166461G>A	NCBI36
NG_008212.3:g.13143G>A , LRG_322:g.13143G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*141-10G>A	ENSP00000512434.1:n.*141-10G>A
ENST00000696143.1:c.600-10G>A	ENSP00000512435.1:n.600-10G>A
ENST00000696153.1:c.575-10G>A	ENSP00000512444.1:n.575-10G>A
ENST00000256474.3:c.464-10G>A MANE Select	ENSP00000256474.3:n.464-10G>A
ENST00000256474.2:c.464-10G>A	ENSP00000256474.2:n.464-10G>A
ENST00000345392.2:c.341-10G>A	ENSP00000344757.2:n.341-10G>A
ENST00000477538.1:n.600-10G>A
NM_000551.3:c.464-10G>A , LRG_322t1:c.464-10G>A	NP_000542.1:n.464-10G>A
NM_198156.2:c.341-10G>A	NP_937799.1:n.341-10G>A
NM_001354723.1:c.*18-10G>A	NP_001341652.1:n.*18-10G>A
NM_000551.4:c.464-10G>A MANE Select	NP_000542.1:n.464-10G>A
NM_001354723.2:c.*18-10G>A	NP_001341652.1:n.*18-10G>A
NM_198156.3:c.341-10G>A	NP_937799.1:n.341-10G>A