Canonical Allele Identifier: CA351756478

Gene: VHL

Linked Data

• MyVariant Identifiers: chr3:g.10191588T>C (hg19) ; chr3:g.10149904T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149904T>C , CM000665.2:g.10149904T>C	GRCh38
NC_000003.11:g.10191588T>C , CM000665.1:g.10191588T>C	GRCh37
NC_000003.10:g.10166588T>C	NCBI36
NG_008212.3:g.13270T>C , LRG_322:g.13270T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*258T>C	ENSP00000512434.1:n.*258T>C
ENST00000696143.1:c.717T>C	ENSP00000512435.1:n.717T>C
ENST00000696153.1:c.692T>C	ENSP00000512444.1:p.Val231Ala
ENST00000256474.3:c.581T>C MANE Select	ENSP00000256474.3:p.Val194Ala
ENST00000256474.2:c.581T>C	ENSP00000256474.2:p.Val194Ala
ENST00000345392.2:c.458T>C	ENSP00000344757.2:p.Val153Ala
ENST00000477538.1:n.717T>C
NM_000551.3:c.581T>C , LRG_322t1:c.581T>C	NP_000542.1:p.Val194Ala
NM_198156.2:c.458T>C	NP_937799.1:p.Val153Ala
NM_001354723.1:c.*135T>C	NP_001341652.1:n.*135T>C
NM_000551.4:c.581T>C MANE Select	NP_000542.1:p.Val194Ala
NM_001354723.2:c.*135T>C	NP_001341652.1:n.*135T>C
NM_198156.3:c.458T>C	NP_937799.1:p.Val153Ala