Canonical Allele Identifier: CA351754210

Gene: VHL

Linked Data

• dbSNP Id: rs2125128440
• COSMIC: COSM17655
• MyVariant Identifiers: chr3:g.10188288G>C (hg19) ; chr3:g.10146604G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146604G>C , CM000665.2:g.10146604G>C	GRCh38
NC_000003.11:g.10188288G>C , CM000665.1:g.10188288G>C	GRCh37
NC_000003.10:g.10163288G>C	NCBI36
NG_008212.3:g.9970G>C , LRG_322:g.9970G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*108G>C	ENSP00000512434.1:n.*108G>C
ENST00000696143.1:c.600-3183G>C	ENSP00000512435.1:n.600-3183G>C
ENST00000696153.1:c.431G>C	ENSP00000512444.1:p.Gly144Ala
ENST00000256474.3:c.431G>C MANE Select	ENSP00000256474.3:p.Gly144Ala
ENST00000256474.2:c.431G>C	ENSP00000256474.2:p.Gly144Ala
ENST00000345392.2:c.341-3183G>C	ENSP00000344757.2:n.341-3183G>C
ENST00000477538.1:n.567G>C
NM_000551.3:c.431G>C , LRG_322t1:c.431G>C	NP_000542.1:p.Gly144Ala
NM_198156.2:c.341-3183G>C	NP_937799.1:n.341-3183G>C
NM_001354723.1:c.*18-3183G>C	NP_001341652.1:n.*18-3183G>C
NM_000551.4:c.431G>C MANE Select	NP_000542.1:p.Gly144Ala
NM_001354723.2:c.*18-3183G>C	NP_001341652.1:n.*18-3183G>C
NM_198156.3:c.341-3183G>C	NP_937799.1:n.341-3183G>C