Canonical Allele Identifier: CA351756270

Gene: VHL

Linked Data

• ClinVar Variation Id: 2946037
• ClinVar RCV Id: RCV003806323
• MyVariant Identifiers: chr3:g.10191545A>C (hg19) ; chr3:g.10149861A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149861A>C , CM000665.2:g.10149861A>C	GRCh38
NC_000003.11:g.10191545A>C , CM000665.1:g.10191545A>C	GRCh37
NC_000003.10:g.10166545A>C	NCBI36
NG_008212.3:g.13227A>C , LRG_322:g.13227A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*215A>C	ENSP00000512434.1:n.*215A>C
ENST00000696143.1:c.674A>C	ENSP00000512435.1:n.674A>C
ENST00000696153.1:c.649A>C	ENSP00000512444.1:p.Ile217Leu
ENST00000256474.3:c.538A>C MANE Select	ENSP00000256474.3:p.Ile180Leu
ENST00000256474.2:c.538A>C	ENSP00000256474.2:p.Ile180Leu
ENST00000345392.2:c.415A>C	ENSP00000344757.2:p.Ile139Leu
ENST00000477538.1:n.674A>C
NM_000551.3:c.538A>C , LRG_322t1:c.538A>C	NP_000542.1:p.Ile180Leu
NM_198156.2:c.415A>C	NP_937799.1:p.Ile139Leu
NM_001354723.1:c.*92A>C	NP_001341652.1:n.*92A>C
NM_000551.4:c.538A>C MANE Select	NP_000542.1:p.Ile180Leu
NM_001354723.2:c.*92A>C	NP_001341652.1:n.*92A>C
NM_198156.3:c.415A>C	NP_937799.1:p.Ile139Leu