Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: CA1044994378

Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs1575920130

gnomAD v3: 3-10141544-T-G

gnomAD v4: 3-10141544-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141544T>G , CM000665.2:g.10141544T>G	GRCh38
NC_000003.11:g.10183228T>G , CM000665.1:g.10183228T>G	GRCh37
NC_000003.10:g.10158228T>G	NCBI36
NG_008212.3:g.4910T>G , LRG_322:g.4910T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000256474.2:c.-304T>G	ENSP00000256474.2:n.-304T>G

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