Canonical Allele Identifier: CA1345065219
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10152435A= , CM000665.2:g.10152435A= GRCh38
NC_000003.11:g.10194119A= , CM000665.1:g.10194119A= GRCh37
NC_000003.10:g.10169119A= NCBI36
NG_008212.3:g.15801A= , LRG_322:g.15801A=

Transcript Alleles

HGVS Amino-acid change
ENST00000696153.1:c.*2470A= ENSP00000512444.1:n.*2470A=
ENST00000256474.3:c.*2470A= MANE Select ENSP00000256474.3:n.*2470A=
NM_000551.3:c.*2470A= , LRG_322t1:c.*2470A= NP_000542.1:n.*2470A=
NM_198156.2:c.*2470A= NP_937799.1:n.*2470A=
NM_001354723.1:c.*2666A= NP_001341652.1:n.*2666A=
NM_000551.4:c.*2470A= MANE Select NP_000542.1:n.*2470A=
NM_001354723.2:c.*2666A= NP_001341652.1:n.*2666A=
NM_198156.3:c.*2470A= NP_937799.1:n.*2470A=