Canonical Allele Identifier: CA351756199

Gene: VHL

Linked Data

• dbSNP Id: rs2125130573
• COSMIC: COSM3734681
• MyVariant Identifiers: chr3:g.10191518A>T (hg19) ; chr3:g.10149834A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149834A>T , CM000665.2:g.10149834A>T	GRCh38
NC_000003.11:g.10191518A>T , CM000665.1:g.10191518A>T	GRCh37
NC_000003.10:g.10166518A>T	NCBI36
NG_008212.3:g.13200A>T , LRG_322:g.13200A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*188A>T	ENSP00000512434.1:n.*188A>T
ENST00000696143.1:c.647A>T	ENSP00000512435.1:n.647A>T
ENST00000696153.1:c.622A>T	ENSP00000512444.1:p.Lys208Ter
ENST00000256474.3:c.511A>T MANE Select	ENSP00000256474.3:p.Lys171Ter
ENST00000256474.2:c.511A>T	ENSP00000256474.2:p.Lys171Ter
ENST00000345392.2:c.388A>T	ENSP00000344757.2:p.Lys130Ter
ENST00000477538.1:n.647A>T
NM_000551.3:c.511A>T , LRG_322t1:c.511A>T	NP_000542.1:p.Lys171Ter
NM_198156.2:c.388A>T	NP_937799.1:p.Lys130Ter
NM_001354723.1:c.*65A>T	NP_001341652.1:n.*65A>T
NM_000551.4:c.511A>T MANE Select	NP_000542.1:p.Lys171Ter
NM_001354723.2:c.*65A>T	NP_001341652.1:n.*65A>T
NM_198156.3:c.388A>T	NP_937799.1:p.Lys130Ter