Canonical Allele Identifier: CA351756622

Gene: VHL

Linked Data

• MyVariant Identifiers: chr3:g.10191615A>C (hg19) ; chr3:g.10149931A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149931A>C , CM000665.2:g.10149931A>C	GRCh38
NC_000003.11:g.10191615A>C , CM000665.1:g.10191615A>C	GRCh37
NC_000003.10:g.10166615A>C	NCBI36
NG_008212.3:g.13297A>C , LRG_322:g.13297A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*285A>C	ENSP00000512434.1:n.*285A>C
ENST00000696143.1:c.744A>C	ENSP00000512435.1:n.744A>C
ENST00000696153.1:c.719A>C	ENSP00000512444.1:p.Gln240Pro
ENST00000256474.3:c.608A>C MANE Select	ENSP00000256474.3:p.Gln203Pro
ENST00000256474.2:c.608A>C	ENSP00000256474.2:p.Gln203Pro
ENST00000345392.2:c.485A>C	ENSP00000344757.2:p.Gln162Pro
ENST00000477538.1:n.744A>C
NM_000551.3:c.608A>C , LRG_322t1:c.608A>C	NP_000542.1:p.Gln203Pro
NM_198156.2:c.485A>C	NP_937799.1:p.Gln162Pro
NM_001354723.1:c.*162A>C	NP_001341652.1:n.*162A>C
NM_000551.4:c.608A>C MANE Select	NP_000542.1:p.Gln203Pro
NM_001354723.2:c.*162A>C	NP_001341652.1:n.*162A>C
NM_198156.3:c.485A>C	NP_937799.1:p.Gln162Pro