Canonical Allele Identifier: CA351756332

Gene: VHL

Linked Data

• dbSNP Id: rs2125130664
• MyVariant Identifiers: chr3:g.10191554T>G (hg19) ; chr3:g.10149870T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149870T>G , CM000665.2:g.10149870T>G	GRCh38
NC_000003.11:g.10191554T>G , CM000665.1:g.10191554T>G	GRCh37
NC_000003.10:g.10166554T>G	NCBI36
NG_008212.3:g.13236T>G , LRG_322:g.13236T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*224T>G	ENSP00000512434.1:n.*224T>G
ENST00000696143.1:c.683T>G	ENSP00000512435.1:n.683T>G
ENST00000696153.1:c.658T>G	ENSP00000512444.1:p.Ser220Ala
ENST00000256474.3:c.547T>G MANE Select	ENSP00000256474.3:p.Ser183Ala
ENST00000256474.2:c.547T>G	ENSP00000256474.2:p.Ser183Ala
ENST00000345392.2:c.424T>G	ENSP00000344757.2:p.Ser142Ala
ENST00000477538.1:n.683T>G
NM_000551.3:c.547T>G , LRG_322t1:c.547T>G	NP_000542.1:p.Ser183Ala
NM_198156.2:c.424T>G	NP_937799.1:p.Ser142Ala
NM_001354723.1:c.*101T>G	NP_001341652.1:n.*101T>G
NM_000551.4:c.547T>G MANE Select	NP_000542.1:p.Ser183Ala
NM_001354723.2:c.*101T>G	NP_001341652.1:n.*101T>G
NM_198156.3:c.424T>G	NP_937799.1:p.Ser142Ala