Canonical Allele Identifier: CA2664400268

Gene: VHL

Linked Data

• gnomAD v4: 3-10150283-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150283C>T , CM000665.2:g.10150283C>T	GRCh38
NC_000003.11:g.10191967C>T , CM000665.1:g.10191967C>T	GRCh37
NC_000003.10:g.10166967C>T	NCBI36
NG_008212.3:g.13649C>T , LRG_322:g.13649C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*637C>T	ENSP00000512434.1:n.*637C>T
ENST00000696143.1:c.1096C>T	ENSP00000512435.1:n.1096C>T
ENST00000696153.1:c.*318C>T	ENSP00000512444.1:n.*318C>T
ENST00000256474.3:c.*318C>T MANE Select	ENSP00000256474.3:n.*318C>T
ENST00000256474.2:c.*318C>T	ENSP00000256474.2:n.*318C>T
ENST00000345392.2:c.*318C>T	ENSP00000344757.2:n.*318C>T
NM_000551.3:c.*318C>T , LRG_322t1:c.*318C>T	NP_000542.1:n.*318C>T
NM_198156.2:c.*318C>T	NP_937799.1:n.*318C>T
NM_001354723.1:c.*514C>T	NP_001341652.1:n.*514C>T
NM_000551.4:c.*318C>T MANE Select	NP_000542.1:n.*318C>T
NM_001354723.2:c.*514C>T	NP_001341652.1:n.*514C>T
NM_198156.3:c.*318C>T	NP_937799.1:n.*318C>T