Canonical Allele Identifier: CA540877789

Gene: VHL

Linked Data

• dbSNP Id: rs1177215895
• gnomAD v2: 3-10194685-C-G
• gnomAD v3: 3-10153001-C-G
• gnomAD v4: 3-10153001-C-G
• MyVariant Identifiers: chr3:g.10194685C>G (hg19) ; chr3:g.10153001C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10153001C>G , CM000665.2:g.10153001C>G	GRCh38
NC_000003.11:g.10194685C>G , CM000665.1:g.10194685C>G	GRCh37
NC_000003.10:g.10169685C>G	NCBI36
NG_008212.3:g.16367C>G , LRG_322:g.16367C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696153.1:c.*3036C>G	ENSP00000512444.1:n.*3036C>G
ENST00000256474.3:c.*3036C>G MANE Select	ENSP00000256474.3:n.*3036C>G
NM_000551.3:c.*3036C>G , LRG_322t1:c.*3036C>G	NP_000542.1:n.*3036C>G
NM_198156.2:c.*3036C>G	NP_937799.1:n.*3036C>G
NM_001354723.1:c.*3232C>G	NP_001341652.1:n.*3232C>G
NM_000551.4:c.*3036C>G MANE Select	NP_000542.1:n.*3036C>G
NM_001354723.2:c.*3232C>G	NP_001341652.1:n.*3232C>G
NM_198156.3:c.*3036C>G	NP_937799.1:n.*3036C>G