Canonical Allele Identifier: CA541213515

Gene: VHL

Linked Data

• dbSNP Id: rs1476205556
• gnomAD v2: 3-10183525-G-T
• gnomAD v4: 3-10141841-G-T
• MyVariant Identifiers: chr3:g.10183525G>T (hg19) ; chr3:g.10141841G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141841G>T , CM000665.2:g.10141841G>T	GRCh38
NC_000003.11:g.10183525G>T , CM000665.1:g.10183525G>T	GRCh37
NC_000003.10:g.10158525G>T	NCBI36
NG_008212.3:g.5207G>T , LRG_322:g.5207G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.-7G>T	ENSP00000512434.1:n.-7G>T
ENST00000696153.1:c.-7G>T	ENSP00000512444.1:n.-7G>T
ENST00000256474.3:c.-7G>T MANE Select	ENSP00000256474.3:n.-7G>T
ENST00000256474.2:c.-7G>T	ENSP00000256474.2:n.-7G>T
ENST00000345392.2:c.-7G>T	ENSP00000344757.2:n.-7G>T
NM_000551.3:c.-7G>T , LRG_322t1:c.-7G>T	NP_000542.1:n.-7G>T
NM_198156.2:c.-7G>T	NP_937799.1:n.-7G>T
XM_011534078.1:c.-7G>T	XP_011532380.1:n.-7G>T
NM_001354723.1:c.-7G>T	NP_001341652.1:n.-7G>T
NM_000551.4:c.-7G>T MANE Select	NP_000542.1:n.-7G>T
NM_001354723.2:c.-7G>T	NP_001341652.1:n.-7G>T
NM_198156.3:c.-7G>T	NP_937799.1:n.-7G>T