Canonical Allele Identifier: CA540877793

Gene: VHL

Linked Data

• dbSNP Id: rs923804041
• gnomAD v2: 3-10194689-G-T
• gnomAD v3: 3-10153005-G-T
• gnomAD v4: 3-10153005-G-T
• MyVariant Identifiers: chr3:g.10194689G>T (hg19) ; chr3:g.10153005G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10153005G>T , CM000665.2:g.10153005G>T	GRCh38
NC_000003.11:g.10194689G>T , CM000665.1:g.10194689G>T	GRCh37
NC_000003.10:g.10169689G>T	NCBI36
NG_008212.3:g.16371G>T , LRG_322:g.16371G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696153.1:c.*3040G>T	ENSP00000512444.1:n.*3040G>T
ENST00000256474.3:c.*3040G>T MANE Select	ENSP00000256474.3:n.*3040G>T
NM_000551.3:c.*3040G>T , LRG_322t1:c.*3040G>T	NP_000542.1:n.*3040G>T
NM_198156.2:c.*3040G>T	NP_937799.1:n.*3040G>T
NM_001354723.1:c.*3236G>T	NP_001341652.1:n.*3236G>T
NM_000551.4:c.*3040G>T MANE Select	NP_000542.1:n.*3040G>T
NM_001354723.2:c.*3236G>T	NP_001341652.1:n.*3236G>T
NM_198156.3:c.*3040G>T	NP_937799.1:n.*3040G>T