Canonical Allele Identifier: CA351756408

Gene: VHL

Linked Data

• COSMIC: COSM3783636
• MyVariant Identifiers: chr3:g.10191575G>T (hg19) ; chr3:g.10149891G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149891G>T , CM000665.2:g.10149891G>T	GRCh38
NC_000003.11:g.10191575G>T , CM000665.1:g.10191575G>T	GRCh37
NC_000003.10:g.10166575G>T	NCBI36
NG_008212.3:g.13257G>T , LRG_322:g.13257G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*245G>T	ENSP00000512434.1:n.*245G>T
ENST00000696143.1:c.704G>T	ENSP00000512435.1:n.704G>T
ENST00000696153.1:c.679G>T	ENSP00000512444.1:p.Asp227Tyr
ENST00000256474.3:c.568G>T MANE Select	ENSP00000256474.3:p.Asp190Tyr
ENST00000256474.2:c.568G>T	ENSP00000256474.2:p.Asp190Tyr
ENST00000345392.2:c.445G>T	ENSP00000344757.2:p.Asp149Tyr
ENST00000477538.1:n.704G>T
NM_000551.3:c.568G>T , LRG_322t1:c.568G>T	NP_000542.1:p.Asp190Tyr
NM_198156.2:c.445G>T	NP_937799.1:p.Asp149Tyr
NM_001354723.1:c.*122G>T	NP_001341652.1:n.*122G>T
NM_000551.4:c.568G>T MANE Select	NP_000542.1:p.Asp190Tyr
NM_001354723.2:c.*122G>T	NP_001341652.1:n.*122G>T
NM_198156.3:c.445G>T	NP_937799.1:p.Asp149Tyr