Canonical Allele Identifier: CA351748444

Gene: VHL

Linked Data

• ClinVar Variation Id: 1377127
• ClinVar RCV Id: RCV001889835
• dbSNP Id: rs1553619385
• gnomAD v4: 3-10142006-G-C
• MyVariant Identifiers: chr3:g.10183690G>C (hg19) ; chr3:g.10142006G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142006G>C , CM000665.2:g.10142006G>C	GRCh38
NC_000003.11:g.10183690G>C , CM000665.1:g.10183690G>C	GRCh37
NC_000003.10:g.10158690G>C	NCBI36
NG_008212.3:g.5372G>C , LRG_322:g.5372G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.159G>C	ENSP00000512434.1:p.Glu53Asp
ENST00000696143.1:c.159G>C	ENSP00000512435.1:p.Glu53Asp
ENST00000696153.1:c.159G>C	ENSP00000512444.1:p.Glu53Asp
ENST00000256474.3:c.159G>C MANE Select	ENSP00000256474.3:p.Glu53Asp
ENST00000256474.2:c.159G>C	ENSP00000256474.2:p.Glu53Asp
ENST00000345392.2:c.159G>C	ENSP00000344757.2:p.Glu53Asp
NM_000551.3:c.159G>C , LRG_322t1:c.159G>C	NP_000542.1:p.Glu53Asp
NM_198156.2:c.159G>C	NP_937799.1:p.Glu53Asp
XM_011534078.1:c.159G>C	XP_011532380.1:p.Glu53Asp
NM_001354723.1:c.159G>C	NP_001341652.1:p.Glu53Asp
NM_000551.4:c.159G>C MANE Select	NP_000542.1:p.Glu53Asp
NM_001354723.2:c.159G>C	NP_001341652.1:p.Glu53Asp
NM_198156.3:c.159G>C	NP_937799.1:p.Glu53Asp