Canonical Allele Identifier: CA896168064

Gene: VHL

Linked Data

• dbSNP Id: rs1377187614
• gnomAD v3: 3-10152762-T-G
• gnomAD v4: 3-10152762-T-G
• MyVariant Identifiers: chr3:g.10194446T>G (hg19) ; chr3:g.10152762T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10152762T>G , CM000665.2:g.10152762T>G	GRCh38
NC_000003.11:g.10194446T>G , CM000665.1:g.10194446T>G	GRCh37
NC_000003.10:g.10169446T>G	NCBI36
NG_008212.3:g.16128T>G , LRG_322:g.16128T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696153.1:c.*2797T>G	ENSP00000512444.1:n.*2797T>G
ENST00000256474.3:c.*2797T>G MANE Select	ENSP00000256474.3:n.*2797T>G
NM_000551.3:c.*2797T>G , LRG_322t1:c.*2797T>G	NP_000542.1:n.*2797T>G
NM_198156.2:c.*2797T>G	NP_937799.1:n.*2797T>G
NM_001354723.1:c.*2993T>G	NP_001341652.1:n.*2993T>G
NM_000551.4:c.*2797T>G MANE Select	NP_000542.1:n.*2797T>G
NM_001354723.2:c.*2993T>G	NP_001341652.1:n.*2993T>G
NM_198156.3:c.*2797T>G	NP_937799.1:n.*2797T>G