Canonical Allele Identifier: CA351756415

Gene: VHL

Linked Data

• dbSNP Id: rs2125130723
• MyVariant Identifiers: chr3:g.10191577C>G (hg19) ; chr3:g.10149893C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149893C>G , CM000665.2:g.10149893C>G	GRCh38
NC_000003.11:g.10191577C>G , CM000665.1:g.10191577C>G	GRCh37
NC_000003.10:g.10166577C>G	NCBI36
NG_008212.3:g.13259C>G , LRG_322:g.13259C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*247C>G	ENSP00000512434.1:n.*247C>G
ENST00000696143.1:c.706C>G	ENSP00000512435.1:n.706C>G
ENST00000696153.1:c.681C>G	ENSP00000512444.1:p.Asp227Glu
ENST00000256474.3:c.570C>G MANE Select	ENSP00000256474.3:p.Asp190Glu
ENST00000256474.2:c.570C>G	ENSP00000256474.2:p.Asp190Glu
ENST00000345392.2:c.447C>G	ENSP00000344757.2:p.Asp149Glu
ENST00000477538.1:n.706C>G
NM_000551.3:c.570C>G , LRG_322t1:c.570C>G	NP_000542.1:p.Asp190Glu
NM_198156.2:c.447C>G	NP_937799.1:p.Asp149Glu
NM_001354723.1:c.*124C>G	NP_001341652.1:n.*124C>G
NM_000551.4:c.570C>G MANE Select	NP_000542.1:p.Asp190Glu
NM_001354723.2:c.*124C>G	NP_001341652.1:n.*124C>G
NM_198156.3:c.447C>G	NP_937799.1:p.Asp149Glu