Canonical Allele Identifier: CA541213484

Gene: VHL

Linked Data

• dbSNP Id: rs1349204335
• gnomAD v2: 3-10183466-C-G
• gnomAD v3: 3-10141782-C-G
• gnomAD v4: 3-10141782-C-G
• MyVariant Identifiers: chr3:g.10183466C>G (hg19) ; chr3:g.10141782C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141782C>G , CM000665.2:g.10141782C>G	GRCh38
NC_000003.11:g.10183466C>G , CM000665.1:g.10183466C>G	GRCh37
NC_000003.10:g.10158466C>G	NCBI36
NG_008212.3:g.5148C>G , LRG_322:g.5148C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696153.1:c.-66C>G	ENSP00000512444.1:n.-66C>G
ENST00000256474.3:c.-66C>G MANE Select	ENSP00000256474.3:n.-66C>G
ENST00000256474.2:c.-66C>G	ENSP00000256474.2:n.-66C>G
NM_000551.3:c.-66C>G , LRG_322t1:c.-66C>G	NP_000542.1:n.-66C>G
NM_198156.2:c.-66C>G	NP_937799.1:n.-66C>G
XM_011534078.1:c.-66C>G	XP_011532380.1:n.-66C>G
NM_001354723.1:c.-66C>G	NP_001341652.1:n.-66C>G
NM_000551.4:c.-66C>G MANE Select	NP_000542.1:n.-66C>G
NM_001354723.2:c.-66C>G	NP_001341652.1:n.-66C>G
NM_198156.3:c.-66C>G	NP_937799.1:n.-66C>G