Canonical Allele Identifier: CA351756393

Gene: VHL

Linked Data

• MyVariant Identifiers: chr3:g.10191567A>G (hg19) ; chr3:g.10149883A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149883A>G , CM000665.2:g.10149883A>G	GRCh38
NC_000003.11:g.10191567A>G , CM000665.1:g.10191567A>G	GRCh37
NC_000003.10:g.10166567A>G	NCBI36
NG_008212.3:g.13249A>G , LRG_322:g.13249A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*237A>G	ENSP00000512434.1:n.*237A>G
ENST00000696143.1:c.696A>G	ENSP00000512435.1:n.696A>G
ENST00000696153.1:c.671A>G	ENSP00000512444.1:p.Asp224Gly
ENST00000256474.3:c.560A>G MANE Select	ENSP00000256474.3:p.Asp187Gly
ENST00000256474.2:c.560A>G	ENSP00000256474.2:p.Asp187Gly
ENST00000345392.2:c.437A>G	ENSP00000344757.2:p.Asp146Gly
ENST00000477538.1:n.696A>G
NM_000551.3:c.560A>G , LRG_322t1:c.560A>G	NP_000542.1:p.Asp187Gly
NM_198156.2:c.437A>G	NP_937799.1:p.Asp146Gly
NM_001354723.1:c.*114A>G	NP_001341652.1:n.*114A>G
NM_000551.4:c.560A>G MANE Select	NP_000542.1:p.Asp187Gly
NM_001354723.2:c.*114A>G	NP_001341652.1:n.*114A>G
NM_198156.3:c.437A>G	NP_937799.1:p.Asp146Gly