Canonical Allele Identifier: CA541213526

Gene: VHL

Linked Data

• ClinVar Variation Id: 999017
• ClinVar RCV Id: RCV001294956
• dbSNP Id: rs1238907068
• gnomAD v2: 3-10191462-C-T
• gnomAD v4: 3-10149778-C-T
• MyVariant Identifiers: chr3:g.10191462C>T (hg19) ; chr3:g.10149778C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149778C>T , CM000665.2:g.10149778C>T	GRCh38
NC_000003.11:g.10191462C>T , CM000665.1:g.10191462C>T	GRCh37
NC_000003.10:g.10166462C>T	NCBI36
NG_008212.3:g.13144C>T , LRG_322:g.13144C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*141-9C>T	ENSP00000512434.1:n.*141-9C>T
ENST00000696143.1:c.600-9C>T	ENSP00000512435.1:n.600-9C>T
ENST00000696153.1:c.575-9C>T	ENSP00000512444.1:n.575-9C>T
ENST00000256474.3:c.464-9C>T MANE Select	ENSP00000256474.3:n.464-9C>T
ENST00000256474.2:c.464-9C>T	ENSP00000256474.2:n.464-9C>T
ENST00000345392.2:c.341-9C>T	ENSP00000344757.2:n.341-9C>T
ENST00000477538.1:n.600-9C>T
NM_000551.3:c.464-9C>T , LRG_322t1:c.464-9C>T	NP_000542.1:n.464-9C>T
NM_198156.2:c.341-9C>T	NP_937799.1:n.341-9C>T
NM_001354723.1:c.*18-9C>T	NP_001341652.1:n.*18-9C>T
NM_000551.4:c.464-9C>T MANE Select	NP_000542.1:n.464-9C>T
NM_001354723.2:c.*18-9C>T	NP_001341652.1:n.*18-9C>T
NM_198156.3:c.341-9C>T	NP_937799.1:n.341-9C>T