Canonical Allele Identifier: CA351756401

Gene: VHL

Linked Data

• dbSNP Id: rs762790375
• COSMIC: COSM3364924
• MyVariant Identifiers: chr3:g.10191572G>C (hg19) ; chr3:g.10149888G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149888G>C , CM000665.2:g.10149888G>C	GRCh38
NC_000003.11:g.10191572G>C , CM000665.1:g.10191572G>C	GRCh37
NC_000003.10:g.10166572G>C	NCBI36
NG_008212.3:g.13254G>C , LRG_322:g.13254G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*242G>C	ENSP00000512434.1:n.*242G>C
ENST00000696143.1:c.701G>C	ENSP00000512435.1:n.701G>C
ENST00000696153.1:c.676G>C	ENSP00000512444.1:p.Glu226Gln
ENST00000256474.3:c.565G>C MANE Select	ENSP00000256474.3:p.Glu189Gln
ENST00000256474.2:c.565G>C	ENSP00000256474.2:p.Glu189Gln
ENST00000345392.2:c.442G>C	ENSP00000344757.2:p.Glu148Gln
ENST00000477538.1:n.701G>C
NM_000551.3:c.565G>C , LRG_322t1:c.565G>C	NP_000542.1:p.Glu189Gln
NM_198156.2:c.442G>C	NP_937799.1:p.Glu148Gln
NM_001354723.1:c.*119G>C	NP_001341652.1:n.*119G>C
NM_000551.4:c.565G>C MANE Select	NP_000542.1:p.Glu189Gln
NM_001354723.2:c.*119G>C	NP_001341652.1:n.*119G>C
NM_198156.3:c.442G>C	NP_937799.1:p.Glu148Gln