Canonical Allele Identifier: CA351756553

Gene: VHL

Linked Data

• dbSNP Id: rs1325187978
• gnomAD v2: 3-10191602-G-C
• gnomAD v3: 3-10149918-G-C
• gnomAD v4: 3-10149918-G-C
• MyVariant Identifiers: chr3:g.10191602G>C (hg19) ; chr3:g.10149918G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149918G>C , CM000665.2:g.10149918G>C	GRCh38
NC_000003.11:g.10191602G>C , CM000665.1:g.10191602G>C	GRCh37
NC_000003.10:g.10166602G>C	NCBI36
NG_008212.3:g.13284G>C , LRG_322:g.13284G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*272G>C	ENSP00000512434.1:n.*272G>C
ENST00000696143.1:c.731G>C	ENSP00000512435.1:n.731G>C
ENST00000696153.1:c.706G>C	ENSP00000512444.1:p.Glu236Gln
ENST00000256474.3:c.595G>C MANE Select	ENSP00000256474.3:p.Glu199Gln
ENST00000256474.2:c.595G>C	ENSP00000256474.2:p.Glu199Gln
ENST00000345392.2:c.472G>C	ENSP00000344757.2:p.Glu158Gln
ENST00000477538.1:n.731G>C
NM_000551.3:c.595G>C , LRG_322t1:c.595G>C	NP_000542.1:p.Glu199Gln
NM_198156.2:c.472G>C	NP_937799.1:p.Glu158Gln
NM_001354723.1:c.*149G>C	NP_001341652.1:n.*149G>C
NM_000551.4:c.595G>C MANE Select	NP_000542.1:p.Glu199Gln
NM_001354723.2:c.*149G>C	NP_001341652.1:n.*149G>C
NM_198156.3:c.472G>C	NP_937799.1:p.Glu158Gln