Canonical Allele Identifier: CA351756330

Gene: VHL

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*224T>C	ENSP00000512434.1:n.*224T>C
ENST00000696143.1:c.683T>C	ENSP00000512435.1:n.683T>C
ENST00000696153.1:c.658T>C	ENSP00000512444.1:p.Ser220Pro
ENST00000256474.3:c.547T>C MANE Select	ENSP00000256474.3:p.Ser183Pro
ENST00000256474.2:c.547T>C	ENSP00000256474.2:p.Ser183Pro
ENST00000345392.2:c.424T>C	ENSP00000344757.2:p.Ser142Pro
ENST00000477538.1:n.683T>C
NM_000551.3:c.547T>C , LRG_322t1:c.547T>C	NP_000542.1:p.Ser183Pro
NM_198156.2:c.424T>C	NP_937799.1:p.Ser142Pro
NM_001354723.1:c.*101T>C	NP_001341652.1:n.*101T>C
NM_000551.4:c.547T>C MANE Select	NP_000542.1:p.Ser183Pro
NM_001354723.2:c.*101T>C	NP_001341652.1:n.*101T>C
NM_198156.3:c.424T>C	NP_937799.1:p.Ser142Pro