Canonical Allele Identifier: CA351756192

Gene: VHL

Linked Data

• ClinVar Variation Id: 828174
• ClinVar RCV Id: RCV001028059
• dbSNP Id: rs1553620326
• MyVariant Identifiers: chr3:g.10191515G>C (hg19) ; chr3:g.10149831G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149831G>C , CM000665.2:g.10149831G>C	GRCh38
NC_000003.11:g.10191515G>C , CM000665.1:g.10191515G>C	GRCh37
NC_000003.10:g.10166515G>C	NCBI36
NG_008212.3:g.13197G>C , LRG_322:g.13197G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*185G>C	ENSP00000512434.1:n.*185G>C
ENST00000696143.1:c.644G>C	ENSP00000512435.1:n.644G>C
ENST00000696153.1:c.619G>C	ENSP00000512444.1:p.Val207Leu
ENST00000256474.3:c.508G>C MANE Select	ENSP00000256474.3:p.Val170Leu
ENST00000256474.2:c.508G>C	ENSP00000256474.2:p.Val170Leu
ENST00000345392.2:c.385G>C	ENSP00000344757.2:p.Val129Leu
ENST00000477538.1:n.644G>C
NM_000551.3:c.508G>C , LRG_322t1:c.508G>C	NP_000542.1:p.Val170Leu
NM_198156.2:c.385G>C	NP_937799.1:p.Val129Leu
NM_001354723.1:c.*62G>C	NP_001341652.1:n.*62G>C
NM_000551.4:c.508G>C MANE Select	NP_000542.1:p.Val170Leu
NM_001354723.2:c.*62G>C	NP_001341652.1:n.*62G>C
NM_198156.3:c.385G>C	NP_937799.1:p.Val129Leu