Canonical Allele Identifier: CA16617787

Gene: VHL

Linked Data

• ClinVar Variation Id: 420073
• ClinVar RCV Id: RCV000479941 ; RCV000767237 ; RCV001201718
• dbSNP Id: rs1064794271
• MyVariant Identifiers: chr3:g.10183755T>G (hg19) ; chr3:g.10142071T>G (hg38)
• CIViC: CA16617787

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142071T>G , CM000665.2:g.10142071T>G	GRCh38
NC_000003.11:g.10183755T>G , CM000665.1:g.10183755T>G	GRCh37
NC_000003.10:g.10158755T>G	NCBI36
NG_008212.3:g.5437T>G , LRG_322:g.5437T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.224T>G	ENSP00000512434.1:p.Ile75Ser
ENST00000696143.1:c.224T>G	ENSP00000512435.1:p.Ile75Ser
ENST00000696153.1:c.224T>G	ENSP00000512444.1:p.Ile75Ser
ENST00000256474.3:c.224T>G MANE Select	ENSP00000256474.3:p.Ile75Ser
ENST00000256474.2:c.224T>G	ENSP00000256474.2:p.Ile75Ser
ENST00000345392.2:c.224T>G	ENSP00000344757.2:p.Ile75Ser
NM_000551.3:c.224T>G , LRG_322t1:c.224T>G	NP_000542.1:p.Ile75Ser
NM_198156.2:c.224T>G	NP_937799.1:p.Ile75Ser
XM_011534078.1:c.224T>G	XP_011532380.1:p.Ile75Ser
NM_001354723.1:c.224T>G	NP_001341652.1:p.Ile75Ser
NM_000551.4:c.224T>G MANE Select	NP_000542.1:p.Ile75Ser
NM_001354723.2:c.224T>G	NP_001341652.1:p.Ile75Ser
NM_198156.3:c.224T>G	NP_937799.1:p.Ile75Ser