Canonical Allele Identifier: CA351756229

Gene: VHL

Linked Data

• dbSNP Id: rs193922613
• MyVariant Identifiers: chr3:g.10191531A>C (hg19) ; chr3:g.10149847A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149847A>C , CM000665.2:g.10149847A>C	GRCh38
NC_000003.11:g.10191531A>C , CM000665.1:g.10191531A>C	GRCh37
NC_000003.10:g.10166531A>C	NCBI36
NG_008212.3:g.13213A>C , LRG_322:g.13213A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*201A>C	ENSP00000512434.1:n.*201A>C
ENST00000696143.1:c.660A>C	ENSP00000512435.1:n.660A>C
ENST00000696153.1:c.635A>C	ENSP00000512444.1:p.Tyr212Ser
ENST00000256474.3:c.524A>C MANE Select	ENSP00000256474.3:p.Tyr175Ser
ENST00000256474.2:c.524A>C	ENSP00000256474.2:p.Tyr175Ser
ENST00000345392.2:c.401A>C	ENSP00000344757.2:p.Tyr134Ser
ENST00000477538.1:n.660A>C
NM_000551.3:c.524A>C , LRG_322t1:c.524A>C	NP_000542.1:p.Tyr175Ser
NM_198156.2:c.401A>C	NP_937799.1:p.Tyr134Ser
NM_001354723.1:c.*78A>C	NP_001341652.1:n.*78A>C
NM_000551.4:c.524A>C MANE Select	NP_000542.1:p.Tyr175Ser
NM_001354723.2:c.*78A>C	NP_001341652.1:n.*78A>C
NM_198156.3:c.401A>C	NP_937799.1:p.Tyr134Ser