ClinGen Allele Registry
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Canonical Allele Identifier:
CA3712429
Gene: HCP5
HGNC
NCBI
Linked Data
dbSNP Id:
rs780527068
ExAC:
6:31431741 A / C
gnomAD v2:
6-31431741-A-C
gnomAD v3:
6-31463964-A-C
gnomAD v4:
6-31463964-A-C
MyVariant Identifiers:
chr6:g.31431741A>C (hg19)
chr6:g.31463964A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31463964A>C , CM000668.2:g.31463964A>C
GRCh38
NC_000006.11:g.31431741A>C , CM000668.1:g.31431741A>C
GRCh37
NC_000006.10:g.31539720A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_040662.1:n.694A>C
Search 100 bp 5'
Search 100 bp 3'