Canonical Allele Identifier: CA2664400176

Gene: VHL

Linked Data

• gnomAD v4: 3-10150193-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150193A>T , CM000665.2:g.10150193A>T	GRCh38
NC_000003.11:g.10191877A>T , CM000665.1:g.10191877A>T	GRCh37
NC_000003.10:g.10166877A>T	NCBI36
NG_008212.3:g.13559A>T , LRG_322:g.13559A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*547A>T	ENSP00000512434.1:n.*547A>T
ENST00000696143.1:c.1006A>T	ENSP00000512435.1:n.1006A>T
ENST00000696153.1:c.*228A>T	ENSP00000512444.1:n.*228A>T
ENST00000256474.3:c.*228A>T MANE Select	ENSP00000256474.3:n.*228A>T
ENST00000256474.2:c.*228A>T	ENSP00000256474.2:n.*228A>T
ENST00000345392.2:c.*228A>T	ENSP00000344757.2:n.*228A>T
NM_000551.3:c.*228A>T , LRG_322t1:c.*228A>T	NP_000542.1:n.*228A>T
NM_198156.2:c.*228A>T	NP_937799.1:n.*228A>T
NM_001354723.1:c.*424A>T	NP_001341652.1:n.*424A>T
NM_000551.4:c.*228A>T MANE Select	NP_000542.1:n.*228A>T
NM_001354723.2:c.*424A>T	NP_001341652.1:n.*424A>T
NM_198156.3:c.*228A>T	NP_937799.1:n.*228A>T