Canonical Allele Identifier: CA896167941

Gene: VHL

Linked Data

• dbSNP Id: rs1225416619
• gnomAD v3: 3-10152556-G-C
• gnomAD v4: 3-10152556-G-C
• MyVariant Identifiers: chr3:g.10194240G>C (hg19) ; chr3:g.10152556G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10152556G>C , CM000665.2:g.10152556G>C	GRCh38
NC_000003.11:g.10194240G>C , CM000665.1:g.10194240G>C	GRCh37
NC_000003.10:g.10169240G>C	NCBI36
NG_008212.3:g.15922G>C , LRG_322:g.15922G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696153.1:c.*2591G>C	ENSP00000512444.1:n.*2591G>C
ENST00000256474.3:c.*2591G>C MANE Select	ENSP00000256474.3:n.*2591G>C
NM_000551.3:c.*2591G>C , LRG_322t1:c.*2591G>C	NP_000542.1:n.*2591G>C
NM_198156.2:c.*2591G>C	NP_937799.1:n.*2591G>C
NM_001354723.1:c.*2787G>C	NP_001341652.1:n.*2787G>C
NM_000551.4:c.*2591G>C MANE Select	NP_000542.1:n.*2591G>C
NM_001354723.2:c.*2787G>C	NP_001341652.1:n.*2787G>C
NM_198156.3:c.*2591G>C	NP_937799.1:n.*2591G>C