Canonical Allele Identifier: CA2664399712
Gene: VHL HGNC NCBI

Linked Data

gnomAD v4: 3-10141662-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141662T>C , CM000665.2:g.10141662T>C GRCh38
NC_000003.11:g.10183346T>C , CM000665.1:g.10183346T>C GRCh37
NC_000003.10:g.10158346T>C NCBI36
NG_008212.3:g.5028T>C , LRG_322:g.5028T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.2:c.-186T>C ENSP00000256474.2:n.-186T>C
NM_000551.3:c.-186T>C , LRG_322t1:c.-186T>C NP_000542.1:n.-186T>C
NM_198156.2:c.-186T>C NP_937799.1:n.-186T>C
NM_001354723.1:c.-186T>C NP_001341652.1:n.-186T>C