Canonical Allele Identifier: CA040059

Gene: VHL

Linked Data

• ClinVar Variation Id: 704061
• ClinVar RCV Id: RCV000873955 ; RCV002434136 ; RCV004003091
• dbSNP Id: rs781063331
• ExAC: 3:10183789 C / T
• gnomAD v2: 3-10183789-C-T
• gnomAD v4: 3-10142105-C-T
• MyVariant Identifiers: chr3:g.10183789C>T (hg19) ; chr3:g.10142105C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142105C>T , CM000665.2:g.10142105C>T	GRCh38
NC_000003.11:g.10183789C>T , CM000665.1:g.10183789C>T	GRCh37
NC_000003.10:g.10158789C>T	NCBI36
NG_008212.3:g.5471C>T , LRG_322:g.5471C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.258C>T	ENSP00000512434.1:p.Pro86=
ENST00000696143.1:c.258C>T	ENSP00000512435.1:p.Pro86=
ENST00000696153.1:c.258C>T	ENSP00000512444.1:p.Pro86=
ENST00000256474.3:c.258C>T MANE Select	ENSP00000256474.3:p.Pro86=
ENST00000256474.2:c.258C>T	ENSP00000256474.2:p.Pro86=
ENST00000345392.2:c.258C>T	ENSP00000344757.2:p.Pro86=
NM_000551.3:c.258C>T , LRG_322t1:c.258C>T	NP_000542.1:p.Pro86=
NM_198156.2:c.258C>T	NP_937799.1:p.Pro86=
XM_011534078.1:c.258C>T	XP_011532380.1:p.Pro86=
NM_001354723.1:c.258C>T	NP_001341652.1:p.Pro86=
NM_000551.4:c.258C>T MANE Select	NP_000542.1:p.Pro86=
NM_001354723.2:c.258C>T	NP_001341652.1:p.Pro86=
NM_198156.3:c.258C>T	NP_937799.1:p.Pro86=