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: CA136062956

Gene: HCG18 HGNC NCBI
HCG17 HGNC NCBI

Linked Data

dbSNP Id: rs3130380

gnomAD v2: 6-30279130-G-A

gnomAD v3: 6-30311353-G-A

gnomAD v4: 6-30311353-G-A

MyVariant Identifiers: chr6:g.30279130G>A (hg19) chr6:g.30311353G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30311353G>A , CM000668.2:g.30311353G>A	GRCh38
NC_000006.11:g.30279130G>A , CM000668.1:g.30279130G>A	GRCh37
NC_000006.10:g.30387109G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_024052.2:n.1017+2916C>T (HCG18)
NR_024053.2:n.803+15001C>T (HCG18)
NR_052012.1:n.126+14656C>T (HCG17)
NR_102326.1:n.803+15001C>T (HCG18)
NR_102327.1:n.1006+14798C>T (HCG18)

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