Canonical Allele Identifier: CA70053497

Gene: VHL

Linked Data

• ClinVar Variation Id: 900620
• ClinVar RCV Id: RCV001145975
• dbSNP Id: rs72563745
• gnomAD v2: 3-10192830-G-C
• gnomAD v3: 3-10151146-G-C
• gnomAD v4: 3-10151146-G-C
• MyVariant Identifiers: chr3:g.10192830G>C (hg19) ; chr3:g.10151146G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10151146G>C , CM000665.2:g.10151146G>C	GRCh38
NC_000003.11:g.10192830G>C , CM000665.1:g.10192830G>C	GRCh37
NC_000003.10:g.10167830G>C	NCBI36
NG_008212.3:g.14512G>C , LRG_322:g.14512G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*1500G>C	ENSP00000512434.1:n.*1500G>C
ENST00000696143.1:c.1959G>C	ENSP00000512435.1:n.1959G>C
ENST00000696153.1:c.*1181G>C	ENSP00000512444.1:n.*1181G>C
ENST00000256474.3:c.*1181G>C MANE Select	ENSP00000256474.3:n.*1181G>C
ENST00000256474.2:c.*1181G>C	ENSP00000256474.2:n.*1181G>C
ENST00000345392.2:c.*1181G>C	ENSP00000344757.2:n.*1181G>C
NM_000551.3:c.*1181G>C , LRG_322t1:c.*1181G>C	NP_000542.1:n.*1181G>C
NM_198156.2:c.*1181G>C	NP_937799.1:n.*1181G>C
NM_001354723.1:c.*1377G>C	NP_001341652.1:n.*1377G>C
NM_000551.4:c.*1181G>C MANE Select	NP_000542.1:n.*1181G>C
NM_001354723.2:c.*1377G>C	NP_001341652.1:n.*1377G>C
NM_198156.3:c.*1181G>C	NP_937799.1:n.*1181G>C