Canonical Allele Identifier: CA041030
Community Standard Title: NM_000551.4(VHL):c.449A>G (p.Asn150Ser)
Gene: VHL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146622A>G , CM000665.2:g.10146622A>G GRCh38
NC_000003.11:g.10188306A>G , CM000665.1:g.10188306A>G GRCh37
NC_000003.10:g.10163306A>G NCBI36
NG_008212.3:g.9988A>G , LRG_322:g.9988A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000551.4:c.449A>G MANE Select NP_000542.1:p.Asn150Ser
ENST00000256474.3:c.449A>G MANE Select ENSP00000256474.3:p.Asn150Ser
NM_000551.3:c.449A>G , LRG_322t1:c.449A>G NP_000542.1:p.Asn150Ser
NM_001354723.1:c.*18-3165A>G NP_001341652.1:n.*18-3165A>G
NM_001354723.2:c.*18-3165A>G NP_001341652.1:n.*18-3165A>G
NM_198156.2:c.341-3165A>G NP_937799.1:n.341-3165A>G
NM_198156.3:c.341-3165A>G NP_937799.1:n.341-3165A>G
ENST00000256474.2:c.449A>G ENSP00000256474.2:p.Asn150Ser
ENST00000345392.2:c.341-3165A>G ENSP00000344757.2:n.341-3165A>G
ENST00000477538.1:n.585A>G
ENST00000696142.1:c.*126A>G ENSP00000512434.1:n.*126A>G
ENST00000696143.1:c.600-3165A>G ENSP00000512435.1:n.600-3165A>G
ENST00000696153.1:c.449A>G ENSP00000512444.1:p.Asn150Ser
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