Canonical Allele Identifier: CA351756174

Gene: VHL

Linked Data

• dbSNP Id: rs104893825
• MyVariant Identifiers: chr3:g.10191503G>C (hg19) ; chr3:g.10149819G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149819G>C , CM000665.2:g.10149819G>C	GRCh38
NC_000003.11:g.10191503G>C , CM000665.1:g.10191503G>C	GRCh37
NC_000003.10:g.10166503G>C	NCBI36
NG_008212.3:g.13185G>C , LRG_322:g.13185G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*173G>C	ENSP00000512434.1:n.*173G>C
ENST00000696143.1:c.632G>C	ENSP00000512435.1:n.632G>C
ENST00000696153.1:c.607G>C	ENSP00000512444.1:p.Val203Leu
ENST00000256474.3:c.496G>C MANE Select	ENSP00000256474.3:p.Val166Leu
ENST00000256474.2:c.496G>C	ENSP00000256474.2:p.Val166Leu
ENST00000345392.2:c.373G>C	ENSP00000344757.2:p.Val125Leu
ENST00000477538.1:n.632G>C
NM_000551.3:c.496G>C , LRG_322t1:c.496G>C	NP_000542.1:p.Val166Leu
NM_198156.2:c.373G>C	NP_937799.1:p.Val125Leu
NM_001354723.1:c.*50G>C	NP_001341652.1:n.*50G>C
NM_000551.4:c.496G>C MANE Select	NP_000542.1:p.Val166Leu
NM_001354723.2:c.*50G>C	NP_001341652.1:n.*50G>C
NM_198156.3:c.373G>C	NP_937799.1:p.Val125Leu