Canonical Allele Identifier: CA351753833

Gene: VHL

Linked Data

• ClinVar Variation Id: 526681
• ClinVar RCV Id: RCV000631278 ; RCV001766342
• dbSNP Id: rs104893831
• MyVariant Identifiers: chr3:g.10188233G>C (hg19) ; chr3:g.10146549G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146549G>C , CM000665.2:g.10146549G>C	GRCh38
NC_000003.11:g.10188233G>C , CM000665.1:g.10188233G>C	GRCh37
NC_000003.10:g.10163233G>C	NCBI36
NG_008212.3:g.9915G>C , LRG_322:g.9915G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*53G>C	ENSP00000512434.1:n.*53G>C
ENST00000696143.1:c.600-3238G>C	ENSP00000512435.1:n.600-3238G>C
ENST00000696153.1:c.376G>C	ENSP00000512444.1:p.Asp126His
ENST00000256474.3:c.376G>C MANE Select	ENSP00000256474.3:p.Asp126His
ENST00000256474.2:c.376G>C	ENSP00000256474.2:p.Asp126His
ENST00000345392.2:c.341-3238G>C	ENSP00000344757.2:n.341-3238G>C
ENST00000477538.1:n.512G>C
NM_000551.3:c.376G>C , LRG_322t1:c.376G>C	NP_000542.1:p.Asp126His
NM_198156.2:c.341-3238G>C	NP_937799.1:n.341-3238G>C
XM_011534078.1:c.*53G>C	XP_011532380.1:n.*53G>C
NM_001354723.1:c.*18-3238G>C	NP_001341652.1:n.*18-3238G>C
NM_000551.4:c.376G>C MANE Select	NP_000542.1:p.Asp126His
NM_001354723.2:c.*18-3238G>C	NP_001341652.1:n.*18-3238G>C
NM_198156.3:c.341-3238G>C	NP_937799.1:n.341-3238G>C