Canonical Allele Identifier: CA70055078

Gene: VHL

Linked Data

• dbSNP Id: rs539147546
• gnomAD v2: 3-10194940-C-T
• gnomAD v3: 3-10153256-C-T
• gnomAD v4: 3-10153256-C-T
• MyVariant Identifiers: chr3:g.10194940C>T (hg19) ; chr3:g.10153256C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10153256C>T , CM000665.2:g.10153256C>T	GRCh38
NC_000003.11:g.10194940C>T , CM000665.1:g.10194940C>T	GRCh37
NC_000003.10:g.10169940C>T	NCBI36
NG_008212.3:g.16622C>T , LRG_322:g.16622C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696153.1:c.*3291C>T	ENSP00000512444.1:n.*3291C>T
ENST00000256474.3:c.*3291C>T MANE Select	ENSP00000256474.3:n.*3291C>T
NM_000551.3:c.*3291C>T , LRG_322t1:c.*3291C>T	NP_000542.1:n.*3291C>T
NM_198156.2:c.*3291C>T	NP_937799.1:n.*3291C>T
NM_001354723.1:c.*3487C>T	NP_001341652.1:n.*3487C>T
NM_000551.4:c.*3291C>T MANE Select	NP_000542.1:n.*3291C>T
NM_001354723.2:c.*3487C>T	NP_001341652.1:n.*3487C>T
NM_198156.3:c.*3291C>T	NP_937799.1:n.*3291C>T