Canonical Allele Identifier: CA351756456

Gene: VHL

Linked Data

• dbSNP Id: rs879254225
• gnomAD v4: 3-10149901-A-T
• MyVariant Identifiers: chr3:g.10191585A>T (hg19) ; chr3:g.10149901A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149901A>T , CM000665.2:g.10149901A>T	GRCh38
NC_000003.11:g.10191585A>T , CM000665.1:g.10191585A>T	GRCh37
NC_000003.10:g.10166585A>T	NCBI36
NG_008212.3:g.13267A>T , LRG_322:g.13267A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*255A>T	ENSP00000512434.1:n.*255A>T
ENST00000696143.1:c.714A>T	ENSP00000512435.1:n.714A>T
ENST00000696153.1:c.689A>T	ENSP00000512444.1:p.Asn230Ile
ENST00000256474.3:c.578A>T MANE Select	ENSP00000256474.3:p.Asn193Ile
ENST00000256474.2:c.578A>T	ENSP00000256474.2:p.Asn193Ile
ENST00000345392.2:c.455A>T	ENSP00000344757.2:p.Asn152Ile
ENST00000477538.1:n.714A>T
NM_000551.3:c.578A>T , LRG_322t1:c.578A>T	NP_000542.1:p.Asn193Ile
NM_198156.2:c.455A>T	NP_937799.1:p.Asn152Ile
NM_001354723.1:c.*132A>T	NP_001341652.1:n.*132A>T
NM_000551.4:c.578A>T MANE Select	NP_000542.1:p.Asn193Ile
NM_001354723.2:c.*132A>T	NP_001341652.1:n.*132A>T
NM_198156.3:c.455A>T	NP_937799.1:p.Asn152Ile