Canonical Allele Identifier: CA351756221

Gene: VHL

Linked Data

• ClinVar Variation Id: 641253
• ClinVar RCV Id: RCV000794453
• dbSNP Id: rs1575932235
• MyVariant Identifiers: chr3:g.10191528A>G (hg19) ; chr3:g.10149844A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149844A>G , CM000665.2:g.10149844A>G	GRCh38
NC_000003.11:g.10191528A>G , CM000665.1:g.10191528A>G	GRCh37
NC_000003.10:g.10166528A>G	NCBI36
NG_008212.3:g.13210A>G , LRG_322:g.13210A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*198A>G	ENSP00000512434.1:n.*198A>G
ENST00000696143.1:c.657A>G	ENSP00000512435.1:n.657A>G
ENST00000696153.1:c.632A>G	ENSP00000512444.1:p.Asn211Ser
ENST00000256474.3:c.521A>G MANE Select	ENSP00000256474.3:p.Asn174Ser
ENST00000256474.2:c.521A>G	ENSP00000256474.2:p.Asn174Ser
ENST00000345392.2:c.398A>G	ENSP00000344757.2:p.Asn133Ser
ENST00000477538.1:n.657A>G
NM_000551.3:c.521A>G , LRG_322t1:c.521A>G	NP_000542.1:p.Asn174Ser
NM_198156.2:c.398A>G	NP_937799.1:p.Asn133Ser
NM_001354723.1:c.*75A>G	NP_001341652.1:n.*75A>G
NM_000551.4:c.521A>G MANE Select	NP_000542.1:p.Asn174Ser
NM_001354723.2:c.*75A>G	NP_001341652.1:n.*75A>G
NM_198156.3:c.398A>G	NP_937799.1:p.Asn133Ser