Canonical Allele Identifier: CA70054629

Gene: VHL

Linked Data

• dbSNP Id: rs890914184
• gnomAD v2: 3-10194284-C-G
• gnomAD v3: 3-10152600-C-G
• gnomAD v4: 3-10152600-C-G
• MyVariant Identifiers: chr3:g.10194284C>G (hg19) ; chr3:g.10152600C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10152600C>G , CM000665.2:g.10152600C>G	GRCh38
NC_000003.11:g.10194284C>G , CM000665.1:g.10194284C>G	GRCh37
NC_000003.10:g.10169284C>G	NCBI36
NG_008212.3:g.15966C>G , LRG_322:g.15966C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696153.1:c.*2635C>G	ENSP00000512444.1:n.*2635C>G
ENST00000256474.3:c.*2635C>G MANE Select	ENSP00000256474.3:n.*2635C>G
NM_000551.3:c.*2635C>G , LRG_322t1:c.*2635C>G	NP_000542.1:n.*2635C>G
NM_198156.2:c.*2635C>G	NP_937799.1:n.*2635C>G
NM_001354723.1:c.*2831C>G	NP_001341652.1:n.*2831C>G
NM_000551.4:c.*2635C>G MANE Select	NP_000542.1:n.*2635C>G
NM_001354723.2:c.*2831C>G	NP_001341652.1:n.*2831C>G
NM_198156.3:c.*2635C>G	NP_937799.1:n.*2635C>G