Canonical Allele Identifier: CA896168247

Gene: VHL

Linked Data

• dbSNP Id: rs1299103553
• gnomAD v3: 3-10153014-T-C
• gnomAD v4: 3-10153014-T-C
• MyVariant Identifiers: chr3:g.10194698T>C (hg19) ; chr3:g.10153014T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10153014T>C , CM000665.2:g.10153014T>C	GRCh38
NC_000003.11:g.10194698T>C , CM000665.1:g.10194698T>C	GRCh37
NC_000003.10:g.10169698T>C	NCBI36
NG_008212.3:g.16380T>C , LRG_322:g.16380T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696153.1:c.*3049T>C	ENSP00000512444.1:n.*3049T>C
ENST00000256474.3:c.*3049T>C MANE Select	ENSP00000256474.3:n.*3049T>C
NM_000551.3:c.*3049T>C , LRG_322t1:c.*3049T>C	NP_000542.1:n.*3049T>C
NM_198156.2:c.*3049T>C	NP_937799.1:n.*3049T>C
NM_001354723.1:c.*3245T>C	NP_001341652.1:n.*3245T>C
NM_000551.4:c.*3049T>C MANE Select	NP_000542.1:n.*3049T>C
NM_001354723.2:c.*3245T>C	NP_001341652.1:n.*3245T>C
NM_198156.3:c.*3049T>C	NP_937799.1:n.*3049T>C