Canonical Allele Identifier: CA351756389

Gene: VHL

Linked Data

• dbSNP Id: rs2125130696
• COSMIC: COSM1757302
• MyVariant Identifiers: chr3:g.10191566G>A (hg19) ; chr3:g.10149882G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149882G>A , CM000665.2:g.10149882G>A	GRCh38
NC_000003.11:g.10191566G>A , CM000665.1:g.10191566G>A	GRCh37
NC_000003.10:g.10166566G>A	NCBI36
NG_008212.3:g.13248G>A , LRG_322:g.13248G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*236G>A	ENSP00000512434.1:n.*236G>A
ENST00000696143.1:c.695G>A	ENSP00000512435.1:n.695G>A
ENST00000696153.1:c.670G>A	ENSP00000512444.1:p.Asp224Asn
ENST00000256474.3:c.559G>A MANE Select	ENSP00000256474.3:p.Asp187Asn
ENST00000256474.2:c.559G>A	ENSP00000256474.2:p.Asp187Asn
ENST00000345392.2:c.436G>A	ENSP00000344757.2:p.Asp146Asn
ENST00000477538.1:n.695G>A
NM_000551.3:c.559G>A , LRG_322t1:c.559G>A	NP_000542.1:p.Asp187Asn
NM_198156.2:c.436G>A	NP_937799.1:p.Asp146Asn
NM_001354723.1:c.*113G>A	NP_001341652.1:n.*113G>A
NM_000551.4:c.559G>A MANE Select	NP_000542.1:p.Asp187Asn
NM_001354723.2:c.*113G>A	NP_001341652.1:n.*113G>A
NM_198156.3:c.436G>A	NP_937799.1:p.Asp146Asn