Canonical Allele Identifier: CA2577505269

Gene: VHL

Linked Data

• dbSNP Id: rs2125130373

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149740A>T , CM000665.2:g.10149740A>T	GRCh38
NC_000003.11:g.10191424A>T , CM000665.1:g.10191424A>T	GRCh37
NC_000003.10:g.10166424A>T	NCBI36
NG_008212.3:g.13106A>T , LRG_322:g.13106A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*141-47A>T	ENSP00000512434.1:n.*141-47A>T
ENST00000696143.1:c.600-47A>T	ENSP00000512435.1:n.600-47A>T
ENST00000696153.1:c.575-47A>T	ENSP00000512444.1:n.575-47A>T
ENST00000256474.3:c.464-47A>T MANE Select	ENSP00000256474.3:n.464-47A>T
ENST00000256474.2:c.464-47A>T	ENSP00000256474.2:n.464-47A>T
ENST00000345392.2:c.341-47A>T	ENSP00000344757.2:n.341-47A>T
ENST00000477538.1:n.600-47A>T
NM_000551.3:c.464-47A>T , LRG_322t1:c.464-47A>T	NP_000542.1:n.464-47A>T
NM_198156.2:c.341-47A>T	NP_937799.1:n.341-47A>T
NM_001354723.1:c.*18-47A>T	NP_001341652.1:n.*18-47A>T
NM_000551.4:c.464-47A>T MANE Select	NP_000542.1:n.464-47A>T
NM_001354723.2:c.*18-47A>T	NP_001341652.1:n.*18-47A>T
NM_198156.3:c.341-47A>T	NP_937799.1:n.341-47A>T